Canonical Allele Identifier: CA2625960229

Gene: GALC

Linked Data

• gnomAD v4: 14-87976210-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976210C>A , CM000676.2:g.87976210C>A	GRCh38
NC_000014.8:g.88442554C>A , CM000676.1:g.88442554C>A	GRCh37
NC_000014.7:g.87512307C>A	NCBI36
NG_011853.2:g.22354G>T
NG_011853.3:g.22354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+148G>T MANE Select	ENSP00000261304.2:n.752+148G>T
ENST00000261304.6:c.752+148G>T	ENSP00000261304.2:n.752+148G>T
ENST00000393568.8:c.683+148G>T	ENSP00000377198.4:n.683+148G>T
ENST00000393569.6:c.674+148G>T	ENSP00000377199.2:n.674+148G>T
ENST00000474294.6:n.742+148G>T
ENST00000477716.3:n.507+148G>T
ENST00000544807.6:c.584+148G>T	ENSP00000437513.2:n.584+148G>T
ENST00000555000.5:c.119+148G>T	ENSP00000450472.1:n.119+148G>T
ENST00000557316.5:c.*150+148G>T	ENSP00000452314.1:n.*150+148G>T
ENST00000622264.4:c.742+148G>T
NM_000153.3:c.752+148G>T	NP_000144.2:n.752+148G>T
NM_001201401.1:c.683+148G>T	NP_001188330.1:n.683+148G>T
NM_001201402.1:c.674+148G>T	NP_001188331.1:n.674+148G>T
XM_011536618.1:c.584+148G>T	XP_011534920.1:n.584+148G>T
XM_011536618.2:c.584+148G>T	XP_011534920.1:n.584+148G>T
NM_000153.4:c.752+148G>T MANE Select	NP_000144.2:n.752+148G>T
NM_001201401.2:c.683+148G>T	NP_001188330.1:n.683+148G>T
NM_001201402.2:c.674+148G>T	NP_001188331.1:n.674+148G>T