Canonical Allele Identifier: CA2153387446
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87988480G= , CM000676.2:g.87988480G= GRCh38
NC_000014.8:g.88454824G= , CM000676.1:g.88454824G= GRCh37
NC_000014.7:g.87524577G= NCBI36
NG_011853.2:g.10084C=
NG_011853.3:g.10084C=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.239C= MANE Select ENSP00000261304.2:p.Ser80=
ENST00000261304.6:c.239C= ENSP00000261304.2:p.Ser80=
ENST00000393568.8:c.196-273C= ENSP00000377198.4:n.196-273C=
ENST00000393569.6:c.161C= ENSP00000377199.2:p.Ser54=
ENST00000474294.6:n.229C=
ENST00000544807.6:c.71C= ENSP00000437513.2:p.Ser24=
ENST00000554372.5:c.239C= ENSP00000451884.1:p.Ser80=
ENST00000554916.5:n.118C=
ENST00000555956.1:n.44C=
ENST00000556879.5:c.299C= ENSP00000452208.1:n.299C=
ENST00000557316.5:c.239C= ENSP00000452314.1:p.Ser80=
ENST00000622264.4:c.229C=
NM_000153.3:c.239C= NP_000144.2:p.Ser80=
NM_001201401.1:c.196-273C= NP_001188330.1:n.196-273C=
NM_001201402.1:c.161C= NP_001188331.1:p.Ser54=
XM_011536618.1:c.71C= XP_011534920.1:p.Ser24=
XM_011536618.2:c.71C= XP_011534920.1:p.Ser24=
NM_000153.4:c.239C= MANE Select NP_000144.2:p.Ser80=
NM_001201401.2:c.196-273C= NP_001188330.1:n.196-273C=
NM_001201402.2:c.161C= NP_001188331.1:p.Ser54=