Canonical Allele Identifier: CA1630856145
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87933279T= , CM000676.2:g.87933279T= GRCh38
NC_000014.8:g.88399623T= , CM000676.1:g.88399623T= GRCh37
NC_000014.7:g.87469376T= NCBI36
NG_011853.2:g.65285A=
NG_011853.3:g.65285A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.*1453A= MANE Select ENSP00000261304.2:n.*1453A=
ENST00000261304.6:c.*1453A= ENSP00000261304.2:n.*1453A=
ENST00000555000.5:c.*74+620A= ENSP00000450472.1:n.*74+620A=
NM_000153.3:c.*1453A= NP_000144.2:n.*1453A=
NM_001201401.1:c.*1453A= NP_001188330.1:n.*1453A=
NM_001201402.1:c.*1453A= NP_001188331.1:n.*1453A=
XM_011536618.1:c.*1453A= XP_011534920.1:n.*1453A=
XM_011536618.2:c.*1453A= XP_011534920.1:n.*1453A=
NM_000153.4:c.*1453A= MANE Select NP_000144.2:n.*1453A=
NM_001201401.2:c.*1453A= NP_001188330.1:n.*1453A=
NM_001201402.2:c.*1453A= NP_001188331.1:n.*1453A=