Canonical Allele Identifier: CA7296826

Gene: GALC

Linked Data

• dbSNP Id: rs749415816
• ExAC: 14:88401088 T / G
• gnomAD v2: 14-88401088-T-G
• gnomAD v3: 14-87934744-T-G
• gnomAD v4: 14-87934744-T-G
• MyVariant Identifiers: chr14:g.88401088T>G (hg19) ; chr14:g.87934744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934744T>G , CM000676.2:g.87934744T>G	GRCh38
NC_000014.8:g.88401088T>G , CM000676.1:g.88401088T>G	GRCh37
NC_000014.7:g.87470841T>G	NCBI36
NG_011853.2:g.63820A>C
NG_011853.3:g.63820A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2046A>C MANE Select	ENSP00000261304.2:p.Glu682Asp
ENST00000261304.6:c.2046A>C	ENSP00000261304.2:p.Glu682Asp
ENST00000393568.8:c.1977A>C	ENSP00000377198.4:p.Glu659Asp
ENST00000393569.6:c.1968A>C	ENSP00000377199.2:p.Glu656Asp
ENST00000544807.6:c.1744-745A>C	ENSP00000437513.2:n.1744-745A>C
ENST00000555000.5:c.1279-745A>C	ENSP00000450472.1:n.1279-745A>C
NM_000153.3:c.2046A>C	NP_000144.2:p.Glu682Asp
NM_001201401.1:c.1977A>C	NP_001188330.1:p.Glu659Asp
NM_001201402.1:c.1968A>C	NP_001188331.1:p.Glu656Asp
XM_011536618.1:c.1878A>C	XP_011534920.1:p.Glu626Asp
XM_011536618.2:c.1878A>C	XP_011534920.1:p.Glu626Asp
NM_000153.4:c.2046A>C MANE Select	NP_000144.2:p.Glu682Asp
NM_001201401.2:c.1977A>C	NP_001188330.1:p.Glu659Asp
NM_001201402.2:c.1968A>C	NP_001188331.1:p.Glu656Asp