Canonical Allele Identifier: CA2153358618
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947600T= , CM000676.2:g.87947600T= GRCh38
NC_000014.8:g.88413944T= , CM000676.1:g.88413944T= GRCh37
NC_000014.7:g.87483697T= NCBI36
NG_011853.2:g.50964A=
NG_011853.3:g.50964A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1489+128A= MANE Select ENSP00000261304.2:n.1489+128A=
ENST00000261304.6:c.1489+128A= ENSP00000261304.2:n.1489+128A=
ENST00000393568.8:c.1420+128A= ENSP00000377198.4:n.1420+128A=
ENST00000393569.6:c.1411+128A= ENSP00000377199.2:n.1411+128A=
ENST00000544807.6:c.1321+128A= ENSP00000437513.2:n.1321+128A=
ENST00000555000.5:c.856+128A= ENSP00000450472.1:n.856+128A=
ENST00000555179.1:c.206+128A=
ENST00000557316.5:c.*887+128A= ENSP00000452314.1:n.*887+128A=
NM_000153.3:c.1489+128A= NP_000144.2:n.1489+128A=
NM_001201401.1:c.1420+128A= NP_001188330.1:n.1420+128A=
NM_001201402.1:c.1411+128A= NP_001188331.1:n.1411+128A=
XM_011536618.1:c.1321+128A= XP_011534920.1:n.1321+128A=
XM_011536618.2:c.1321+128A= XP_011534920.1:n.1321+128A=
NM_000153.4:c.1489+128A= MANE Select NP_000144.2:n.1489+128A=
NM_001201401.2:c.1420+128A= NP_001188330.1:n.1420+128A=
NM_001201402.2:c.1411+128A= NP_001188331.1:n.1411+128A=