Canonical Allele Identifier: CA2153385597
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984389C= , CM000676.2:g.87984389C= GRCh38
NC_000014.8:g.88450733C= , CM000676.1:g.88450733C= GRCh37
NC_000014.7:g.87520486C= NCBI36
NG_011853.2:g.14175G=
NG_011853.3:g.14175G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.582+5G= MANE Select ENSP00000261304.2:n.582+5G=
ENST00000261304.6:c.582+5G= ENSP00000261304.2:n.582+5G=
ENST00000393568.8:c.513+5G= ENSP00000377198.4:n.513+5G=
ENST00000393569.6:c.504+5G= ENSP00000377199.2:n.504+5G=
ENST00000474294.6:n.572+5G=
ENST00000544807.6:c.414+5G= ENSP00000437513.2:n.414+5G=
ENST00000554372.5:c.*331+5G= ENSP00000451884.1:n.*331+5G=
ENST00000554916.5:n.461+5G=
ENST00000556261.5:n.283+5G=
ENST00000557316.5:c.582+5G= ENSP00000452314.1:n.582+5G=
ENST00000622264.4:c.572+5G=
NM_000153.3:c.582+5G= NP_000144.2:n.582+5G=
NM_001201401.1:c.513+5G= NP_001188330.1:n.513+5G=
NM_001201402.1:c.504+5G= NP_001188331.1:n.504+5G=
XM_011536618.1:c.414+5G= XP_011534920.1:n.414+5G=
XM_011536618.2:c.414+5G= XP_011534920.1:n.414+5G=
NM_000153.4:c.582+5G= MANE Select NP_000144.2:n.582+5G=
NM_001201401.2:c.513+5G= NP_001188330.1:n.513+5G=
NM_001201402.2:c.504+5G= NP_001188331.1:n.504+5G=