Canonical Allele Identifier: CA7297492

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992986G>A , CM000676.2:g.87992986G>A	GRCh38
NC_000014.8:g.88459330G>A , CM000676.1:g.88459330G>A	GRCh37
NC_000014.7:g.87529083G>A	NCBI36
NG_011853.2:g.5578C>T
NG_011853.3:g.5578C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.179C>T MANE Select	NP_000144.2:p.Ala60Val
ENST00000261304.7:c.179C>T MANE Select	ENSP00000261304.2:p.Ala60Val
NM_000153.3:c.179C>T	NP_000144.2:p.Ala60Val
NM_001201401.1:c.179C>T	NP_001188330.1:p.Ala60Val
NM_001201401.2:c.179C>T	NP_001188330.1:p.Ala60Val
NM_001201402.1:c.117+397C>T	NP_001188331.1:n.117+397C>T
NM_001201402.2:c.117+397C>T	NP_001188331.1:n.117+397C>T
ENST00000261304.6:c.179C>T	ENSP00000261304.2:p.Ala60Val
ENST00000393568.8:c.179C>T	ENSP00000377198.4:p.Ala60Val
ENST00000393569.6:c.117+397C>T	ENSP00000377199.2:n.117+397C>T
ENST00000474294.6:n.169C>T
ENST00000554372.5:c.179C>T	ENSP00000451884.1:p.Ala60Val
ENST00000556879.5:c.137C>T	ENSP00000452208.1:p.Ala46Val
ENST00000557316.5:c.179C>T	ENSP00000452314.1:p.Ala60Val
ENST00000622264.4:c.169C>T