Canonical Allele Identifier: CA390771653

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992972C>A , CM000676.2:g.87992972C>A	GRCh38
NC_000014.8:g.88459316C>A , CM000676.1:g.88459316C>A	GRCh37
NC_000014.7:g.87529069C>A	NCBI36
NG_011853.2:g.5592G>T
NG_011853.3:g.5592G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.193G>T MANE Select	NP_000144.2:p.Gly65Trp
ENST00000261304.7:c.193G>T MANE Select	ENSP00000261304.2:p.Gly65Trp
NM_000153.3:c.193G>T	NP_000144.2:p.Gly65Trp
NM_001201401.1:c.193G>T	NP_001188330.1:p.Gly65Trp
NM_001201401.2:c.193G>T	NP_001188330.1:p.Gly65Trp
NM_001201402.1:c.117+411G>T	NP_001188331.1:n.117+411G>T
NM_001201402.2:c.117+411G>T	NP_001188331.1:n.117+411G>T
ENST00000261304.6:c.193G>T	ENSP00000261304.2:p.Gly65Trp
ENST00000393568.8:c.193G>T	ENSP00000377198.4:p.Gly65Trp
ENST00000393569.6:c.117+411G>T	ENSP00000377199.2:n.117+411G>T
ENST00000474294.6:n.183G>T
ENST00000554372.5:c.193G>T	ENSP00000451884.1:p.Gly65Trp
ENST00000556879.5:c.151G>T	ENSP00000452208.1:p.Gly51Trp
ENST00000557316.5:c.193G>T	ENSP00000452314.1:p.Gly65Trp
ENST00000622264.4:c.183G>T