Canonical Allele Identifier: CA12787460

Gene: HMBOX1

Linked Data

• dbSNP Id: rs2221894
• gnomAD v2: 8-28791159-G-A
• gnomAD v3: 8-28933642-G-A
• gnomAD v4: 8-28933642-G-A
• MyVariant Identifiers: chr8:g.28791159G>A (hg19) ; chr8:g.28933642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28933642G>A , CM000670.2:g.28933642G>A	GRCh38
NC_000008.10:g.28791159G>A , CM000670.1:g.28791159G>A	GRCh37
NC_000008.9:g.28847078G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000287701.15:c.-57-30169G>A MANE Select	ENSP00000287701.10:n.-57-30169G>A
ENST00000287701.14:c.-57-30169G>A	ENSP00000287701.10:n.-57-30169G>A
ENST00000355231.9:c.-57-30169G>A	ENSP00000475196.1:n.-57-30169G>A
ENST00000397358.7:c.-57-30169G>A	ENSP00000380516.3:n.-57-30169G>A
ENST00000519047.5:c.-57-30169G>A	ENSP00000430059.1:n.-57-30169G>A
ENST00000519662.5:c.-58+8887G>A	ENSP00000429767.1:n.-58+8887G>A
ENST00000521516.5:c.-57-30169G>A	ENSP00000430238.1:n.-57-30169G>A
ENST00000523613.5:c.-57-30169G>A	ENSP00000452827.1:n.-57-30169G>A
ENST00000558662.5:c.-57-30169G>A	ENSP00000453211.1:n.-57-30169G>A
ENST00000560269.1:n.97-30169G>A
ENST00000560357.5:n.270-30169G>A
ENST00000560599.5:c.-57-30169G>A	ENSP00000453185.1:n.-57-30169G>A
NM_001135726.1:c.-57-30169G>A	NP_001129198.1:n.-57-30169G>A
NM_024567.3:c.-57-30169G>A	NP_078843.2:n.-57-30169G>A
XM_005273635.1:c.-57-30169G>A	XP_005273692.1:n.-57-30169G>A
XM_005273636.1:c.-57-30169G>A	XP_005273693.1:n.-57-30169G>A
XM_005273637.1:c.-57-30169G>A	XP_005273694.1:n.-57-30169G>A
XM_005273638.1:c.-57-30169G>A	XP_005273695.1:n.-57-30169G>A
XM_005273639.1:c.-57-30169G>A	XP_005273696.1:n.-57-30169G>A
XM_005273641.3:c.-57-30169G>A	XP_005273698.1:n.-57-30169G>A
XM_006716396.1:c.-57-30169G>A	XP_006716459.1:n.-57-30169G>A
XM_006716398.1:c.-57-30169G>A	XP_006716461.1:n.-57-30169G>A
XM_011544641.1:c.-57-30169G>A	XP_011542943.1:n.-57-30169G>A
XM_011544642.1:c.-57-30169G>A	XP_011542944.1:n.-57-30169G>A
XR_949473.1:n.286-30169G>A
NM_001135726.2:c.-57-30169G>A	NP_001129198.1:n.-57-30169G>A
NM_001324382.1:c.-57-30169G>A	NP_001311311.1:n.-57-30169G>A
NM_001324383.1:c.-57-30169G>A	NP_001311312.1:n.-57-30169G>A
NM_001324384.1:c.-57-30169G>A	NP_001311313.1:n.-57-30169G>A
NM_001324385.1:c.-57-30169G>A	NP_001311314.1:n.-57-30169G>A
NM_001324386.1:c.-57-30169G>A	NP_001311315.1:n.-57-30169G>A
NM_001324387.1:c.-57-30169G>A	NP_001311316.1:n.-57-30169G>A
NM_001324388.1:c.-57-30169G>A	NP_001311317.1:n.-57-30169G>A
NM_001324389.1:c.-57-30169G>A	NP_001311318.1:n.-57-30169G>A
NM_001324390.1:c.-57-30169G>A	NP_001311319.1:n.-57-30169G>A
NM_001324391.1:c.-57-30169G>A	NP_001311320.1:n.-57-30169G>A
NM_001324392.1:c.-57-30169G>A	NP_001311321.1:n.-57-30169G>A
NM_001324393.1:c.-58+8887G>A	NP_001311322.1:n.-58+8887G>A
NM_001324394.1:c.-57-30169G>A	NP_001311323.1:n.-57-30169G>A
NM_001324395.1:c.-57-30169G>A	NP_001311324.1:n.-57-30169G>A
NM_001330498.1:c.-57-30169G>A	NP_001317427.1:n.-57-30169G>A
NM_024567.4:c.-57-30169G>A	NP_078843.2:n.-57-30169G>A
NR_136757.1:n.310-30169G>A
NR_136758.1:n.310-30169G>A
XM_005273641.5:c.-57-30169G>A	XP_005273698.1:n.-57-30169G>A
XM_006716398.2:c.-57-30169G>A	XP_006716461.1:n.-57-30169G>A
XM_011544642.2:c.-57-30169G>A	XP_011542944.1:n.-57-30169G>A
XM_017013823.2:c.-57-30169G>A	XP_016869312.1:n.-57-30169G>A
XM_017013825.1:c.-57-30169G>A	XP_016869314.1:n.-57-30169G>A
XM_024447269.1:c.-57-30169G>A	XP_024303037.1:n.-57-30169G>A
XR_001745588.1:n.286-30169G>A
XR_001745589.1:n.318-30169G>A
XR_001745590.2:n.217-30169G>A
XR_001745591.1:n.286-30169G>A
XR_001745592.2:n.217-30169G>A
XR_001745593.1:n.286-30169G>A
XR_001745594.1:n.286-30169G>A
XR_001745595.1:n.286-30169G>A
NM_001135726.3:c.-57-30169G>A MANE Select	NP_001129198.1:n.-57-30169G>A
NM_001324382.2:c.-57-30169G>A	NP_001311311.1:n.-57-30169G>A
NM_001324383.2:c.-57-30169G>A	NP_001311312.1:n.-57-30169G>A
NM_001324385.2:c.-57-30169G>A	NP_001311314.1:n.-57-30169G>A
NM_001324386.2:c.-57-30169G>A	NP_001311315.1:n.-57-30169G>A
NM_001324387.2:c.-57-30169G>A	NP_001311316.1:n.-57-30169G>A
NM_001324388.2:c.-57-30169G>A	NP_001311317.1:n.-57-30169G>A
NM_001324389.2:c.-57-30169G>A	NP_001311318.1:n.-57-30169G>A
NM_001324391.2:c.-57-30169G>A	NP_001311320.1:n.-57-30169G>A
NM_001324393.2:c.-58+8887G>A	NP_001311322.1:n.-58+8887G>A
NM_001324394.2:c.-57-30169G>A	NP_001311323.1:n.-57-30169G>A
NM_001324395.2:c.-57-30169G>A	NP_001311324.1:n.-57-30169G>A
NM_001330498.2:c.-57-30169G>A	NP_001317427.1:n.-57-30169G>A
NR_136757.2:n.285-30169G>A
NR_136758.2:n.285-30169G>A