Canonical Allele Identifier: CA145829
Community Standard Title: NM_000155.4(GALT):c.876G>A (p.Thr292=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649053G>A , CM000671.2:g.34649053G>A GRCh38
NC_000009.11:g.34649050G>A , CM000671.1:g.34649050G>A GRCh37
NC_000009.10:g.34639050G>A NCBI36
NG_009029.1:g.7416G>A
NG_028966.1:g.1869G>A
NG_009029.2:g.7465G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.876G>A MANE Select NP_000146.2:p.Thr292=
ENST00000378842.8:c.876G>A MANE Select ENSP00000368119.4:p.Thr292=
NM_000155.3:c.876G>A NP_000146.2:p.Thr292=
NM_001258332.1:c.549G>A NP_001245261.1:p.Thr183=
NM_001258332.2:c.549G>A NP_001245261.1:p.Thr183=
ENST00000378842.7:c.876G>A ENSP00000368119.3:p.Thr292=
ENST00000450095.6:c.549G>A ENSP00000401956.2:p.Thr183=
ENST00000488412.2:n.132G>A
ENST00000489643.6:n.956G>A
ENST00000554550.5:c.*496G>A ENSP00000451435.1:n.*496G>A
ENST00000554638.5:n.1348G>A
ENST00000555020.5:n.1337G>A
ENST00000555086.5:n.983G>A
ENST00000555754.1:n.324G>A
ENST00000556278.1:c.432+597G>A ENSP00000451792.1:n.432+597G>A
ENST00000557706.5:n.1451G>A
ENST00000691183.1:c.*464G>A ENSP00000509954.1:n.*464G>A