Canonical Allele Identifier: CA2153387395
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87988355T= , CM000676.2:g.87988355T= GRCh38
NC_000014.8:g.88454699T= , CM000676.1:g.88454699T= GRCh37
NC_000014.7:g.87524452T= NCBI36
NG_011853.2:g.10209A=
NG_011853.3:g.10209A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.264+100A= MANE Select ENSP00000261304.2:n.264+100A=
ENST00000261304.6:c.264+100A= ENSP00000261304.2:n.264+100A=
ENST00000393568.8:c.196-148A= ENSP00000377198.4:n.196-148A=
ENST00000393569.6:c.186+100A= ENSP00000377199.2:n.186+100A=
ENST00000474294.6:n.254+100A=
ENST00000544807.6:c.96+100A= ENSP00000437513.2:n.96+100A=
ENST00000554372.5:c.264+100A= ENSP00000451884.1:n.264+100A=
ENST00000554916.5:n.143+100A=
ENST00000555956.1:n.69+100A=
ENST00000556879.5:c.324+100A= ENSP00000452208.1:n.324+100A=
ENST00000557316.5:c.264+100A= ENSP00000452314.1:n.264+100A=
ENST00000622264.4:c.254+100A=
NM_000153.3:c.264+100A= NP_000144.2:n.264+100A=
NM_001201401.1:c.196-148A= NP_001188330.1:n.196-148A=
NM_001201402.1:c.186+100A= NP_001188331.1:n.186+100A=
XM_011536618.1:c.96+100A= XP_011534920.1:n.96+100A=
XM_011536618.2:c.96+100A= XP_011534920.1:n.96+100A=
NM_000153.4:c.264+100A= MANE Select NP_000144.2:n.264+100A=
NM_001201401.2:c.196-148A= NP_001188330.1:n.196-148A=
NM_001201402.2:c.186+100A= NP_001188331.1:n.186+100A=