Canonical Allele Identifier: CA7297265

Gene: GALC

Linked Data

• dbSNP Id: rs149743970
• ExAC: 14:88442708 A / G
• gnomAD v2: 14-88442708-A-G
• gnomAD v3: 14-87976364-A-G
• gnomAD v4: 14-87976364-A-G
• MyVariant Identifiers: chr14:g.88442708A>G (hg19) ; chr14:g.87976364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976364A>G , CM000676.2:g.87976364A>G	GRCh38
NC_000014.8:g.88442708A>G , CM000676.1:g.88442708A>G	GRCh37
NC_000014.7:g.87512461A>G	NCBI36
NG_011853.2:g.22200T>C
NG_011853.3:g.22200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.746T>C MANE Select	ENSP00000261304.2:p.Val249Ala
ENST00000261304.6:c.746T>C	ENSP00000261304.2:p.Val249Ala
ENST00000393568.8:c.677T>C	ENSP00000377198.4:p.Val226Ala
ENST00000393569.6:c.668T>C	ENSP00000377199.2:p.Val223Ala
ENST00000474294.6:n.736T>C
ENST00000477716.3:n.501T>C
ENST00000544807.6:c.578T>C	ENSP00000437513.2:p.Val193Ala
ENST00000554916.5:n.625T>C
ENST00000555000.5:c.113T>C	ENSP00000450472.1:p.Val38Ala
ENST00000557316.5:c.*144T>C	ENSP00000452314.1:n.*144T>C
ENST00000622264.4:c.736T>C
NM_000153.3:c.746T>C	NP_000144.2:p.Val249Ala
NM_001201401.1:c.677T>C	NP_001188330.1:p.Val226Ala
NM_001201402.1:c.668T>C	NP_001188331.1:p.Val223Ala
XM_011536618.1:c.578T>C	XP_011534920.1:p.Val193Ala
XM_011536618.2:c.578T>C	XP_011534920.1:p.Val193Ala
NM_000153.4:c.746T>C MANE Select	NP_000144.2:p.Val249Ala
NM_001201401.2:c.677T>C	NP_001188330.1:p.Val226Ala
NM_001201402.2:c.668T>C	NP_001188331.1:p.Val223Ala