Canonical Allele Identifier: CA390745083

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401086G>A (hg19) ; chr14:g.87934742G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2048C>T MANE Select	ENSP00000261304.2:p.Ala683Val
ENST00000261304.6:c.2048C>T	ENSP00000261304.2:p.Ala683Val
ENST00000393568.8:c.1979C>T	ENSP00000377198.4:p.Ala660Val
ENST00000393569.6:c.1970C>T	ENSP00000377199.2:p.Ala657Val
ENST00000544807.6:c.1744-743C>T	ENSP00000437513.2:n.1744-743C>T
ENST00000555000.5:c.1279-743C>T	ENSP00000450472.1:n.1279-743C>T
NM_000153.3:c.2048C>T	NP_000144.2:p.Ala683Val
NM_001201401.1:c.1979C>T	NP_001188330.1:p.Ala660Val
NM_001201402.1:c.1970C>T	NP_001188331.1:p.Ala657Val
XM_011536618.1:c.1880C>T	XP_011534920.1:p.Ala627Val
XM_011536618.2:c.1880C>T	XP_011534920.1:p.Ala627Val
NM_000153.4:c.2048C>T MANE Select	NP_000144.2:p.Ala683Val
NM_001201401.2:c.1979C>T	NP_001188330.1:p.Ala660Val
NM_001201402.2:c.1970C>T	NP_001188331.1:p.Ala657Val