Canonical Allele Identifier: CA2153356978
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945719T= , CM000676.2:g.87945719T= GRCh38
NC_000014.8:g.88412063T= , CM000676.1:g.88412063T= GRCh37
NC_000014.7:g.87481816T= NCBI36
NG_011853.2:g.52845A=
NG_011853.3:g.52845A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1504A= MANE Select ENSP00000261304.2:p.Ser502=
ENST00000261304.6:c.1504A= ENSP00000261304.2:p.Ser502=
ENST00000393568.8:c.1435A= ENSP00000377198.4:p.Ser479=
ENST00000393569.6:c.1426A= ENSP00000377199.2:p.Ser476=
ENST00000544807.6:c.1336A= ENSP00000437513.2:p.Ser446=
ENST00000555000.5:c.871A= ENSP00000450472.1:p.Ser291=
ENST00000555179.1:c.206+2009A=
ENST00000557316.5:c.*902A= ENSP00000452314.1:n.*902A=
NM_000153.3:c.1504A= NP_000144.2:p.Ser502=
NM_001201401.1:c.1435A= NP_001188330.1:p.Ser479=
NM_001201402.1:c.1426A= NP_001188331.1:p.Ser476=
XM_011536618.1:c.1336A= XP_011534920.1:p.Ser446=
XM_011536618.2:c.1336A= XP_011534920.1:p.Ser446=
NM_000153.4:c.1504A= MANE Select NP_000144.2:p.Ser502=
NM_001201401.2:c.1435A= NP_001188330.1:p.Ser479=
NM_001201402.2:c.1426A= NP_001188331.1:p.Ser476=