Canonical Allele Identifier: CA159911062

Gene: GUSB

Linked Data

• ClinVar Variation Id: 1369247
• ClinVar RCV Id: RCV001874614
• dbSNP Id: rs948834547
• gnomAD v2: 7-65446971-G-A
• gnomAD v3: 7-65981984-G-A
• gnomAD v4: 7-65981984-G-A
• MyVariant Identifiers: chr7:g.65446971G>A (hg19) ; chr7:g.65981984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981984G>A , CM000669.2:g.65981984G>A	GRCh38
NC_000007.13:g.65446971G>A , CM000669.1:g.65446971G>A	GRCh37
NC_000007.12:g.65084406G>A	NCBI36
NG_016197.1:g.5331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.200C>T MANE Select	ENSP00000302728.4:p.Pro67Leu
ENST00000304895.8:c.200C>T	ENSP00000302728.4:p.Pro67Leu
ENST00000421103.5:c.200C>T	ENSP00000391390.1:p.Pro67Leu
ENST00000430730.5:c.200C>T	ENSP00000411859.1:p.Pro67Leu
ENST00000446111.1:c.200C>T	ENSP00000416793.1:p.Pro67Leu
ENST00000447929.5:c.200C>T	ENSP00000411262.1:p.Pro67Leu
ENST00000475316.5:n.105C>T
NM_000181.3:c.200C>T	NP_000172.2:p.Pro67Leu
NM_001284290.1:c.200C>T	NP_001271219.1:p.Pro67Leu
NM_001293104.1:c.-186C>T	NP_001280033.1:n.-186C>T
NM_001293105.1:c.-130C>T	NP_001280034.1:n.-130C>T
NR_120531.1:n.331C>T
XM_005250297.3:c.200C>T	XP_005250354.1:p.Pro67Leu
XM_011516113.1:c.-130C>T	XP_011514415.1:n.-130C>T
XR_927461.1:n.326C>T
XM_005250297.4:c.200C>T	XP_005250354.1:p.Pro67Leu
XM_011516114.2:c.-486C>T	XP_011514416.1:n.-486C>T
XM_017012091.1:c.-130C>T	XP_016867580.1:n.-130C>T
XM_017012092.1:c.-186C>T	XP_016867581.1:n.-186C>T
XM_017012093.2:c.-486C>T	XP_016867582.1:n.-486C>T
XR_001744658.2:n.245C>T
XR_001744659.2:n.245C>T
XR_001744660.2:n.245C>T
XR_001744661.2:n.245C>T
XR_927461.3:n.245C>T
NM_000181.4:c.200C>T MANE Select	NP_000172.2:p.Pro67Leu
NM_001284290.2:c.200C>T	NP_001271219.1:p.Pro67Leu
NM_001293104.2:c.-186C>T	NP_001280033.1:n.-186C>T
NM_001293105.2:c.-130C>T	NP_001280034.1:n.-130C>T
NR_120531.2:n.230C>T