Canonical Allele Identifier: CA367655664

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65447137G>C (hg19) ; chr7:g.65982150G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982150G>C , CM000669.2:g.65982150G>C	GRCh38
NC_000007.13:g.65447137G>C , CM000669.1:g.65447137G>C	GRCh37
NC_000007.12:g.65084572G>C	NCBI36
NG_016197.1:g.5165C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.34C>G MANE Select	ENSP00000302728.4:p.Leu12Val
ENST00000304895.8:c.34C>G	ENSP00000302728.4:p.Leu12Val
ENST00000421103.5:c.34C>G	ENSP00000391390.1:p.Leu12Val
ENST00000430730.5:c.34C>G	ENSP00000411859.1:p.Leu12Val
ENST00000446111.1:c.34C>G	ENSP00000416793.1:p.Leu12Val
ENST00000447929.5:c.34C>G	ENSP00000411262.1:p.Leu12Val
NM_000181.3:c.34C>G	NP_000172.2:p.Leu12Val
NM_001284290.1:c.34C>G	NP_001271219.1:p.Leu12Val
NM_001293104.1:c.-352C>G	NP_001280033.1:n.-352C>G
NM_001293105.1:c.-296C>G	NP_001280034.1:n.-296C>G
NR_120531.1:n.165C>G
XM_005250297.3:c.34C>G	XP_005250354.1:p.Leu12Val
XM_011516113.1:c.-296C>G	XP_011514415.1:n.-296C>G
XR_927461.1:n.160C>G
XM_005250297.4:c.34C>G	XP_005250354.1:p.Leu12Val
XM_011516114.2:c.-652C>G	XP_011514416.1:n.-652C>G
XM_017012091.1:c.-296C>G	XP_016867580.1:n.-296C>G
XM_017012092.1:c.-352C>G	XP_016867581.1:n.-352C>G
XM_017012093.2:c.-652C>G	XP_016867582.1:n.-652C>G
XR_001744658.2:n.79C>G
XR_001744659.2:n.79C>G
XR_001744660.2:n.79C>G
XR_001744661.2:n.79C>G
XR_927461.3:n.79C>G
NM_000181.4:c.34C>G MANE Select	NP_000172.2:p.Leu12Val
NM_001284290.2:c.34C>G	NP_001271219.1:p.Leu12Val
NM_001293104.2:c.-352C>G	NP_001280033.1:n.-352C>G
NM_001293105.2:c.-296C>G	NP_001280034.1:n.-296C>G
NR_120531.2:n.64C>G