Canonical Allele Identifier: CA487365201

Gene: GALC

Linked Data

• ClinVar Variation Id: 1451821
• ClinVar RCV Id: RCV002007413
• dbSNP Id: rs2140001415
• gnomAD v4: 14-87968343-A-G
• MyVariant Identifiers: chr14:g.88434687A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968343A>G , CM000676.2:g.87968343A>G	GRCh38
NC_000014.8:g.88434687A>G , CM000676.1:g.88434687A>G	GRCh37
NC_000014.7:g.87504440A>G	NCBI36
NG_011853.2:g.30221T>C
NG_011853.3:g.30221T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.900T>C MANE Select	ENSP00000261304.2:p.Tyr300=
ENST00000261304.6:c.900T>C	ENSP00000261304.2:p.Tyr300=
ENST00000393568.8:c.831T>C	ENSP00000377198.4:p.Tyr277=
ENST00000393569.6:c.822T>C	ENSP00000377199.2:p.Tyr274=
ENST00000474294.6:n.890T>C
ENST00000544807.6:c.732T>C	ENSP00000437513.2:p.Tyr244=
ENST00000555000.5:c.267T>C	ENSP00000450472.1:p.Tyr89=
ENST00000557316.5:c.*298T>C	ENSP00000452314.1:n.*298T>C
ENST00000622264.4:c.890T>C
NM_000153.3:c.900T>C	NP_000144.2:p.Tyr300=
NM_001201401.1:c.831T>C	NP_001188330.1:p.Tyr277=
NM_001201402.1:c.822T>C	NP_001188331.1:p.Tyr274=
XM_011536618.1:c.732T>C	XP_011534920.1:p.Tyr244=
XM_011536618.2:c.732T>C	XP_011534920.1:p.Tyr244=
NM_000153.4:c.900T>C MANE Select	NP_000144.2:p.Tyr300=
NM_001201401.2:c.831T>C	NP_001188330.1:p.Tyr277=
NM_001201402.2:c.822T>C	NP_001188331.1:p.Tyr274=