Canonical Allele Identifier: CA2153358670
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947657T= , CM000676.2:g.87947657T= GRCh38
NC_000014.8:g.88414001T= , CM000676.1:g.88414001T= GRCh37
NC_000014.7:g.87483754T= NCBI36
NG_011853.2:g.50907A=
NG_011853.3:g.50907A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1489+71A= MANE Select ENSP00000261304.2:n.1489+71A=
ENST00000261304.6:c.1489+71A= ENSP00000261304.2:n.1489+71A=
ENST00000393568.8:c.1420+71A= ENSP00000377198.4:n.1420+71A=
ENST00000393569.6:c.1411+71A= ENSP00000377199.2:n.1411+71A=
ENST00000544807.6:c.1321+71A= ENSP00000437513.2:n.1321+71A=
ENST00000555000.5:c.856+71A= ENSP00000450472.1:n.856+71A=
ENST00000555179.1:c.206+71A=
ENST00000557316.5:c.*887+71A= ENSP00000452314.1:n.*887+71A=
NM_000153.3:c.1489+71A= NP_000144.2:n.1489+71A=
NM_001201401.1:c.1420+71A= NP_001188330.1:n.1420+71A=
NM_001201402.1:c.1411+71A= NP_001188331.1:n.1411+71A=
XM_011536618.1:c.1321+71A= XP_011534920.1:n.1321+71A=
XM_011536618.2:c.1321+71A= XP_011534920.1:n.1321+71A=
NM_000153.4:c.1489+71A= MANE Select NP_000144.2:n.1489+71A=
NM_001201401.2:c.1420+71A= NP_001188330.1:n.1420+71A=
NM_001201402.2:c.1411+71A= NP_001188331.1:n.1411+71A=