Canonical Allele Identifier: CA390745090

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401089T>C (hg19) ; chr14:g.87934745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934745T>C , CM000676.2:g.87934745T>C	GRCh38
NC_000014.8:g.88401089T>C , CM000676.1:g.88401089T>C	GRCh37
NC_000014.7:g.87470842T>C	NCBI36
NG_011853.2:g.63819A>G
NG_011853.3:g.63819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2045A>G MANE Select	ENSP00000261304.2:p.Glu682Gly
ENST00000261304.6:c.2045A>G	ENSP00000261304.2:p.Glu682Gly
ENST00000393568.8:c.1976A>G	ENSP00000377198.4:p.Glu659Gly
ENST00000393569.6:c.1967A>G	ENSP00000377199.2:p.Glu656Gly
ENST00000544807.6:c.1744-746A>G	ENSP00000437513.2:n.1744-746A>G
ENST00000555000.5:c.1279-746A>G	ENSP00000450472.1:n.1279-746A>G
NM_000153.3:c.2045A>G	NP_000144.2:p.Glu682Gly
NM_001201401.1:c.1976A>G	NP_001188330.1:p.Glu659Gly
NM_001201402.1:c.1967A>G	NP_001188331.1:p.Glu656Gly
XM_011536618.1:c.1877A>G	XP_011534920.1:p.Glu626Gly
XM_011536618.2:c.1877A>G	XP_011534920.1:p.Glu626Gly
NM_000153.4:c.2045A>G MANE Select	NP_000144.2:p.Glu682Gly
NM_001201401.2:c.1976A>G	NP_001188330.1:p.Glu659Gly
NM_001201402.2:c.1967A>G	NP_001188331.1:p.Glu656Gly