Canonical Allele Identifier: CA709636403

Gene: GALC

Linked Data

• dbSNP Id: rs1406195689
• gnomAD v4: 14-87982053-T-G
• MyVariant Identifiers: chr14:g.88448397T>G (hg19) ; chr14:g.87982053T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982053T>G , CM000676.2:g.87982053T>G	GRCh38
NC_000014.8:g.88448397T>G , CM000676.1:g.88448397T>G	GRCh37
NC_000014.7:g.87518150T>G	NCBI36
NG_011853.2:g.16511A>C
NG_011853.3:g.16511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+152A>C MANE Select	ENSP00000261304.2:n.621+152A>C
ENST00000261304.6:c.621+152A>C	ENSP00000261304.2:n.621+152A>C
ENST00000393568.8:c.552+152A>C	ENSP00000377198.4:n.552+152A>C
ENST00000393569.6:c.543+152A>C	ENSP00000377199.2:n.543+152A>C
ENST00000474294.6:n.611+152A>C
ENST00000544807.6:c.453+152A>C	ENSP00000437513.2:n.453+152A>C
ENST00000554916.5:n.500+152A>C
ENST00000556261.5:n.322+152A>C
ENST00000557316.5:c.621+152A>C	ENSP00000452314.1:n.621+152A>C
ENST00000622264.4:c.611+152A>C
NM_000153.3:c.621+152A>C	NP_000144.2:n.621+152A>C
NM_001201401.1:c.552+152A>C	NP_001188330.1:n.552+152A>C
NM_001201402.1:c.543+152A>C	NP_001188331.1:n.543+152A>C
XM_011536618.1:c.453+152A>C	XP_011534920.1:n.453+152A>C
XM_011536618.2:c.453+152A>C	XP_011534920.1:n.453+152A>C
NM_000153.4:c.621+152A>C MANE Select	NP_000144.2:n.621+152A>C
NM_001201401.2:c.552+152A>C	NP_001188330.1:n.552+152A>C
NM_001201402.2:c.543+152A>C	NP_001188331.1:n.543+152A>C