Canonical Allele Identifier: CA2153385672
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984533C= , CM000676.2:g.87984533C= GRCh38
NC_000014.8:g.88450877C= , CM000676.1:g.88450877C= GRCh37
NC_000014.7:g.87520630C= NCBI36
NG_011853.2:g.14031G=
NG_011853.3:g.14031G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.443G= MANE Select ENSP00000261304.2:p.Gly148=
ENST00000261304.6:c.443G= ENSP00000261304.2:p.Gly148=
ENST00000393568.8:c.374G= ENSP00000377198.4:p.Gly125=
ENST00000393569.6:c.365G= ENSP00000377199.2:p.Gly122=
ENST00000474294.6:n.433G=
ENST00000544807.6:c.275G= ENSP00000437513.2:p.Gly92=
ENST00000554372.5:c.*192G= ENSP00000451884.1:n.*192G=
ENST00000554916.5:n.322G=
ENST00000556261.5:n.144G=
ENST00000556879.5:c.503G= ENSP00000452208.1:n.503G=
ENST00000557316.5:c.443G= ENSP00000452314.1:p.Gly148=
ENST00000622264.4:c.433G=
NM_000153.3:c.443G= NP_000144.2:p.Gly148=
NM_001201401.1:c.374G= NP_001188330.1:p.Gly125=
NM_001201402.1:c.365G= NP_001188331.1:p.Gly122=
XM_011536618.1:c.275G= XP_011534920.1:p.Gly92=
XM_011536618.2:c.275G= XP_011534920.1:p.Gly92=
NM_000153.4:c.443G= MANE Select NP_000144.2:p.Gly148=
NM_001201401.2:c.374G= NP_001188330.1:p.Gly125=
NM_001201402.2:c.365G= NP_001188331.1:p.Gly122=