Canonical Allele Identifier: CA390747655

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965622C>T , CM000676.2:g.87965622C>T	GRCh38
NC_000014.8:g.88431966C>T , CM000676.1:g.88431966C>T	GRCh37
NC_000014.7:g.87501719C>T	NCBI36
NG_011853.2:g.32942G>A
NG_011853.3:g.32942G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.916G>A MANE Select	NP_000144.2:p.Ala306Thr
ENST00000261304.7:c.916G>A MANE Select	ENSP00000261304.2:p.Ala306Thr
NM_000153.3:c.916G>A	NP_000144.2:p.Ala306Thr
NM_001201401.1:c.847G>A	NP_001188330.1:p.Ala283Thr
NM_001201401.2:c.847G>A	NP_001188330.1:p.Ala283Thr
NM_001201402.1:c.838G>A	NP_001188331.1:p.Ala280Thr
NM_001201402.2:c.838G>A	NP_001188331.1:p.Ala280Thr
ENST00000261304.6:c.916G>A	ENSP00000261304.2:p.Ala306Thr
ENST00000393568.8:c.847G>A	ENSP00000377198.4:p.Ala283Thr
ENST00000393569.6:c.838G>A	ENSP00000377199.2:p.Ala280Thr
ENST00000474294.6:n.906G>A
ENST00000544807.6:c.748G>A	ENSP00000437513.2:p.Ala250Thr
ENST00000555000.5:c.283G>A	ENSP00000450472.1:p.Ala95Thr
ENST00000557316.5:c.*314G>A	ENSP00000452314.1:n.*314G>A
ENST00000557520.1:n.2G>A
ENST00000622264.4:c.906G>A
XM_011536618.1:c.748G>A	XP_011534920.1:p.Ala250Thr
XM_011536618.2:c.748G>A	XP_011534920.1:p.Ala250Thr