Canonical Allele Identifier: CA2153349712
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87933280G= , CM000676.2:g.87933280G= GRCh38
NC_000014.8:g.88399624G= , CM000676.1:g.88399624G= GRCh37
NC_000014.7:g.87469377G= NCBI36
NG_011853.2:g.65284C=
NG_011853.3:g.65284C=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.*1452C= MANE Select ENSP00000261304.2:n.*1452C=
ENST00000261304.6:c.*1452C= ENSP00000261304.2:n.*1452C=
ENST00000555000.5:c.*74+619C= ENSP00000450472.1:n.*74+619C=
NM_000153.3:c.*1452C= NP_000144.2:n.*1452C=
NM_001201401.1:c.*1452C= NP_001188330.1:n.*1452C=
NM_001201402.1:c.*1452C= NP_001188331.1:n.*1452C=
XM_011536618.1:c.*1452C= XP_011534920.1:n.*1452C=
XM_011536618.2:c.*1452C= XP_011534920.1:n.*1452C=
NM_000153.4:c.*1452C= MANE Select NP_000144.2:n.*1452C=
NM_001201401.2:c.*1452C= NP_001188330.1:n.*1452C=
NM_001201402.2:c.*1452C= NP_001188331.1:n.*1452C=