Canonical Allele Identifier: CA2153381771
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976405T= , CM000676.2:g.87976405T= GRCh38
NC_000014.8:g.88442749T= , CM000676.1:g.88442749T= GRCh37
NC_000014.7:g.87512502T= NCBI36
NG_011853.2:g.22159A=
NG_011853.3:g.22159A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.705A= MANE Select ENSP00000261304.2:p.Ala235=
ENST00000261304.6:c.705A= ENSP00000261304.2:p.Ala235=
ENST00000393568.8:c.636A= ENSP00000377198.4:p.Ala212=
ENST00000393569.6:c.627A= ENSP00000377199.2:p.Ala209=
ENST00000474294.6:n.695A=
ENST00000477716.3:n.460A=
ENST00000544807.6:c.537A= ENSP00000437513.2:p.Ala179=
ENST00000554916.5:n.584A=
ENST00000555000.5:c.72A= ENSP00000450472.1:p.Ala24=
ENST00000557316.5:c.*103A= ENSP00000452314.1:n.*103A=
ENST00000622264.4:c.695A=
NM_000153.3:c.705A= NP_000144.2:p.Ala235=
NM_001201401.1:c.636A= NP_001188330.1:p.Ala212=
NM_001201402.1:c.627A= NP_001188331.1:p.Ala209=
XM_011536618.1:c.537A= XP_011534920.1:p.Ala179=
XM_011536618.2:c.537A= XP_011534920.1:p.Ala179=
NM_000153.4:c.705A= MANE Select NP_000144.2:p.Ala235=
NM_001201401.2:c.636A= NP_001188330.1:p.Ala212=
NM_001201402.2:c.627A= NP_001188331.1:p.Ala209=