Canonical Allele Identifier: CA2153352727
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939981G= , CM000676.2:g.87939981G= GRCh38
NC_000014.8:g.88406325G= , CM000676.1:g.88406325G= GRCh37
NC_000014.7:g.87476078G= NCBI36
NG_011853.2:g.58583C=
NG_011853.3:g.58583C=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1835C= MANE Select ENSP00000261304.2:p.Ala612=
ENST00000261304.6:c.1835C= ENSP00000261304.2:p.Ala612=
ENST00000393568.8:c.1766C= ENSP00000377198.4:p.Ala589=
ENST00000393569.6:c.1757C= ENSP00000377199.2:p.Ala586=
ENST00000544807.6:c.1667C= ENSP00000437513.2:p.Ala556=
ENST00000555000.5:c.1202C= ENSP00000450472.1:p.Ala401=
ENST00000555179.1:c.371C=
NM_000153.3:c.1835C= NP_000144.2:p.Ala612=
NM_001201401.1:c.1766C= NP_001188330.1:p.Ala589=
NM_001201402.1:c.1757C= NP_001188331.1:p.Ala586=
XM_011536618.1:c.1667C= XP_011534920.1:p.Ala556=
XM_011536618.2:c.1667C= XP_011534920.1:p.Ala556=
NM_000153.4:c.1835C= MANE Select NP_000144.2:p.Ala612=
NM_001201401.2:c.1766C= NP_001188330.1:p.Ala589=
NM_001201402.2:c.1757C= NP_001188331.1:p.Ala586=