Canonical Allele Identifier: CA390745074

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401080C>A (hg19) ; chr14:g.87934736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934736C>A , CM000676.2:g.87934736C>A	GRCh38
NC_000014.8:g.88401080C>A , CM000676.1:g.88401080C>A	GRCh37
NC_000014.7:g.87470833C>A	NCBI36
NG_011853.2:g.63828G>T
NG_011853.3:g.63828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2054G>T MANE Select	ENSP00000261304.2:p.Arg685Leu
ENST00000261304.6:c.2054G>T	ENSP00000261304.2:p.Arg685Leu
ENST00000393568.8:c.1985G>T	ENSP00000377198.4:p.Arg662Leu
ENST00000393569.6:c.1976G>T	ENSP00000377199.2:p.Arg659Leu
ENST00000544807.6:c.1744-737G>T	ENSP00000437513.2:n.1744-737G>T
ENST00000555000.5:c.1279-737G>T	ENSP00000450472.1:n.1279-737G>T
NM_000153.3:c.2054G>T	NP_000144.2:p.Arg685Leu
NM_001201401.1:c.1985G>T	NP_001188330.1:p.Arg662Leu
NM_001201402.1:c.1976G>T	NP_001188331.1:p.Arg659Leu
XM_011536618.1:c.1886G>T	XP_011534920.1:p.Arg629Leu
XM_011536618.2:c.1886G>T	XP_011534920.1:p.Arg629Leu
NM_000153.4:c.2054G>T MANE Select	NP_000144.2:p.Arg685Leu
NM_001201401.2:c.1985G>T	NP_001188330.1:p.Arg662Leu
NM_001201402.2:c.1976G>T	NP_001188331.1:p.Arg659Leu