Canonical Allele Identifier: CA2153385666
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984523C= , CM000676.2:g.87984523C= GRCh38
NC_000014.8:g.88450867C= , CM000676.1:g.88450867C= GRCh37
NC_000014.7:g.87520620C= NCBI36
NG_011853.2:g.14041G=
NG_011853.3:g.14041G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.453G= MANE Select ENSP00000261304.2:p.Trp151=
ENST00000261304.6:c.453G= ENSP00000261304.2:p.Trp151=
ENST00000393568.8:c.384G= ENSP00000377198.4:p.Trp128=
ENST00000393569.6:c.375G= ENSP00000377199.2:p.Trp125=
ENST00000474294.6:n.443G=
ENST00000544807.6:c.285G= ENSP00000437513.2:p.Trp95=
ENST00000554372.5:c.*202G= ENSP00000451884.1:n.*202G=
ENST00000554916.5:n.332G=
ENST00000556261.5:n.154G=
ENST00000556879.5:c.513G= ENSP00000452208.1:n.513G=
ENST00000557316.5:c.453G= ENSP00000452314.1:p.Trp151=
ENST00000622264.4:c.443G=
NM_000153.3:c.453G= NP_000144.2:p.Trp151=
NM_001201401.1:c.384G= NP_001188330.1:p.Trp128=
NM_001201402.1:c.375G= NP_001188331.1:p.Trp125=
XM_011536618.1:c.285G= XP_011534920.1:p.Trp95=
XM_011536618.2:c.285G= XP_011534920.1:p.Trp95=
NM_000153.4:c.453G= MANE Select NP_000144.2:p.Trp151=
NM_001201401.2:c.384G= NP_001188330.1:p.Trp128=
NM_001201402.2:c.375G= NP_001188331.1:p.Trp125=