Canonical Allele Identifier: CA7297497

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87993029C>A , CM000676.2:g.87993029C>A	GRCh38
NC_000014.8:g.88459373C>A , CM000676.1:g.88459373C>A	GRCh37
NC_000014.7:g.87529126C>A	NCBI36
NG_011853.2:g.5535G>T
NG_011853.3:g.5535G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.136G>T MANE Select	NP_000144.2:p.Asp46Tyr
ENST00000261304.7:c.136G>T MANE Select	ENSP00000261304.2:p.Asp46Tyr
NM_000153.3:c.136G>T	NP_000144.2:p.Asp46Tyr
NM_001201401.1:c.136G>T	NP_001188330.1:p.Asp46Tyr
NM_001201401.2:c.136G>T	NP_001188330.1:p.Asp46Tyr
NM_001201402.1:c.117+354G>T	NP_001188331.1:n.117+354G>T
NM_001201402.2:c.117+354G>T	NP_001188331.1:n.117+354G>T
ENST00000261304.6:c.136G>T	ENSP00000261304.2:p.Asp46Tyr
ENST00000393568.8:c.136G>T	ENSP00000377198.4:p.Asp46Tyr
ENST00000393569.6:c.117+354G>T	ENSP00000377199.2:n.117+354G>T
ENST00000474294.6:n.126G>T
ENST00000554372.5:c.136G>T	ENSP00000451884.1:p.Asp46Tyr
ENST00000556879.5:c.94G>T	ENSP00000452208.1:p.Asp32Tyr
ENST00000557316.5:c.136G>T	ENSP00000452314.1:p.Asp46Tyr
ENST00000622264.4:c.126G>T