Canonical Allele Identifier: CA7296825

Gene: GALC

Linked Data

• dbSNP Id: rs780073716
• ExAC: 14:88401086 G / T
• gnomAD v2: 14-88401086-G-T
• MyVariant Identifiers: chr14:g.88401086G>T (hg19) ; chr14:g.87934742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934742G>T , CM000676.2:g.87934742G>T	GRCh38
NC_000014.8:g.88401086G>T , CM000676.1:g.88401086G>T	GRCh37
NC_000014.7:g.87470839G>T	NCBI36
NG_011853.2:g.63822C>A
NG_011853.3:g.63822C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2048C>A MANE Select	ENSP00000261304.2:p.Ala683Asp
ENST00000261304.6:c.2048C>A	ENSP00000261304.2:p.Ala683Asp
ENST00000393568.8:c.1979C>A	ENSP00000377198.4:p.Ala660Asp
ENST00000393569.6:c.1970C>A	ENSP00000377199.2:p.Ala657Asp
ENST00000544807.6:c.1744-743C>A	ENSP00000437513.2:n.1744-743C>A
ENST00000555000.5:c.1279-743C>A	ENSP00000450472.1:n.1279-743C>A
NM_000153.3:c.2048C>A	NP_000144.2:p.Ala683Asp
NM_001201401.1:c.1979C>A	NP_001188330.1:p.Ala660Asp
NM_001201402.1:c.1970C>A	NP_001188331.1:p.Ala657Asp
XM_011536618.1:c.1880C>A	XP_011534920.1:p.Ala627Asp
XM_011536618.2:c.1880C>A	XP_011534920.1:p.Ala627Asp
NM_000153.4:c.2048C>A MANE Select	NP_000144.2:p.Ala683Asp
NM_001201401.2:c.1979C>A	NP_001188330.1:p.Ala660Asp
NM_001201402.2:c.1970C>A	NP_001188331.1:p.Ala657Asp