Canonical Allele Identifier: CA2153386616
Community Standard Title: NM_000153.4(GALC):c.334A= (p.Thr112=)
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87986597T= , CM000676.2:g.87986597T= GRCh38
NC_000014.8:g.88452941T= , CM000676.1:g.88452941T= GRCh37
NC_000014.7:g.87522694T= NCBI36
NG_011853.2:g.11967A=
NG_011853.3:g.11967A=

Transcript Alleles

HGVS Amino-acid Change
NM_000153.4:c.334A= MANE Select NP_000144.2:p.Thr112=
ENST00000261304.7:c.334A= MANE Select ENSP00000261304.2:p.Thr112=
NM_000153.3:c.334A= NP_000144.2:p.Thr112=
NM_001201401.1:c.265A= NP_001188330.1:p.Thr89=
NM_001201401.2:c.265A= NP_001188330.1:p.Thr89=
NM_001201402.1:c.256A= NP_001188331.1:p.Thr86=
NM_001201402.2:c.256A= NP_001188331.1:p.Thr86=
ENST00000261304.6:c.334A= ENSP00000261304.2:p.Thr112=
ENST00000393568.8:c.265A= ENSP00000377198.4:p.Thr89=
ENST00000393569.6:c.256A= ENSP00000377199.2:p.Thr86=
ENST00000474294.6:n.324A=
ENST00000544807.6:c.166A= ENSP00000437513.2:p.Thr56=
ENST00000554372.5:c.*83A= ENSP00000451884.1:n.*83A=
ENST00000554916.5:n.213A=
ENST00000556261.5:n.35A=
ENST00000556879.5:c.394A= ENSP00000452208.1:n.394A=
ENST00000557316.5:c.334A= ENSP00000452314.1:p.Thr112=
ENST00000622264.4:c.324A=
XM_011536618.1:c.166A= XP_011534920.1:p.Thr56=
XM_011536618.2:c.166A= XP_011534920.1:p.Thr56=