Canonical Allele Identifier: CA2153349714
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87933285T= , CM000676.2:g.87933285T= GRCh38
NC_000014.8:g.88399629T= , CM000676.1:g.88399629T= GRCh37
NC_000014.7:g.87469382T= NCBI36
NG_011853.2:g.65279A=
NG_011853.3:g.65279A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.*1447A= MANE Select ENSP00000261304.2:n.*1447A=
ENST00000261304.6:c.*1447A= ENSP00000261304.2:n.*1447A=
ENST00000555000.5:c.*74+614A= ENSP00000450472.1:n.*74+614A=
NM_000153.3:c.*1447A= NP_000144.2:n.*1447A=
NM_001201401.1:c.*1447A= NP_001188330.1:n.*1447A=
NM_001201402.1:c.*1447A= NP_001188331.1:n.*1447A=
XM_011536618.1:c.*1447A= XP_011534920.1:n.*1447A=
XM_011536618.2:c.*1447A= XP_011534920.1:n.*1447A=
NM_000153.4:c.*1447A= MANE Select NP_000144.2:n.*1447A=
NM_001201401.2:c.*1447A= NP_001188330.1:n.*1447A=
NM_001201402.2:c.*1447A= NP_001188331.1:n.*1447A=