Canonical Allele Identifier: CA390746370

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414075C>G (hg19) ; chr14:g.87947731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947731C>G , CM000676.2:g.87947731C>G	GRCh38
NC_000014.8:g.88414075C>G , CM000676.1:g.88414075C>G	GRCh37
NC_000014.7:g.87483828C>G	NCBI36
NG_011853.2:g.50833G>C
NG_011853.3:g.50833G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1486G>C MANE Select	ENSP00000261304.2:p.Val496Leu
ENST00000261304.6:c.1486G>C	ENSP00000261304.2:p.Val496Leu
ENST00000393568.8:c.1417G>C	ENSP00000377198.4:p.Val473Leu
ENST00000393569.6:c.1408G>C	ENSP00000377199.2:p.Val470Leu
ENST00000544807.6:c.1318G>C	ENSP00000437513.2:p.Val440Leu
ENST00000555000.5:c.853G>C	ENSP00000450472.1:p.Val285Leu
ENST00000555179.1:c.203G>C
ENST00000557316.5:c.*884G>C	ENSP00000452314.1:n.*884G>C
NM_000153.3:c.1486G>C	NP_000144.2:p.Val496Leu
NM_001201401.1:c.1417G>C	NP_001188330.1:p.Val473Leu
NM_001201402.1:c.1408G>C	NP_001188331.1:p.Val470Leu
XM_011536618.1:c.1318G>C	XP_011534920.1:p.Val440Leu
XM_011536618.2:c.1318G>C	XP_011534920.1:p.Val440Leu
NM_000153.4:c.1486G>C MANE Select	NP_000144.2:p.Val496Leu
NM_001201401.2:c.1417G>C	NP_001188330.1:p.Val473Leu
NM_001201402.2:c.1408G>C	NP_001188331.1:p.Val470Leu