Canonical Allele Identifier: CA2153358730
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947719A= , CM000676.2:g.87947719A= GRCh38
NC_000014.8:g.88414063A= , CM000676.1:g.88414063A= GRCh37
NC_000014.7:g.87483816A= NCBI36
NG_011853.2:g.50845T=
NG_011853.3:g.50845T=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1489+9T= MANE Select ENSP00000261304.2:n.1489+9T=
ENST00000261304.6:c.1489+9T= ENSP00000261304.2:n.1489+9T=
ENST00000393568.8:c.1420+9T= ENSP00000377198.4:n.1420+9T=
ENST00000393569.6:c.1411+9T= ENSP00000377199.2:n.1411+9T=
ENST00000544807.6:c.1321+9T= ENSP00000437513.2:n.1321+9T=
ENST00000555000.5:c.856+9T= ENSP00000450472.1:n.856+9T=
ENST00000555179.1:c.206+9T=
ENST00000557316.5:c.*887+9T= ENSP00000452314.1:n.*887+9T=
NM_000153.3:c.1489+9T= NP_000144.2:n.1489+9T=
NM_001201401.1:c.1420+9T= NP_001188330.1:n.1420+9T=
NM_001201402.1:c.1411+9T= NP_001188331.1:n.1411+9T=
XM_011536618.1:c.1321+9T= XP_011534920.1:n.1321+9T=
XM_011536618.2:c.1321+9T= XP_011534920.1:n.1321+9T=
NM_000153.4:c.1489+9T= MANE Select NP_000144.2:n.1489+9T=
NM_001201401.2:c.1420+9T= NP_001188330.1:n.1420+9T=
NM_001201402.2:c.1411+9T= NP_001188331.1:n.1411+9T=