Canonical Allele Identifier: CA1845640445
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649047T= , CM000671.2:g.34649047T= GRCh38
NC_000009.11:g.34649044T= , CM000671.1:g.34649044T= GRCh37
NC_000009.10:g.34639044T= NCBI36
NG_009029.1:g.7410T=
NG_028966.1:g.1863T=
NG_009029.2:g.7459T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*458T= ENSP00000509954.1:n.*458T=
ENST00000378842.8:c.870T= MANE Select ENSP00000368119.4:p.Phe290=
ENST00000378842.7:c.870T= ENSP00000368119.3:p.Phe290=
ENST00000450095.6:c.543T= ENSP00000401956.2:p.Phe181=
ENST00000488412.2:n.126T=
ENST00000489643.6:n.950T=
ENST00000554550.5:c.*490T= ENSP00000451435.1:n.*490T=
ENST00000554638.5:n.1342T=
ENST00000555020.5:n.1331T=
ENST00000555086.5:n.977T=
ENST00000555754.1:n.318T=
ENST00000556278.1:c.432+591T= ENSP00000451792.1:n.432+591T=
ENST00000557706.5:n.1445T=
NM_000155.3:c.870T= NP_000146.2:p.Phe290=
NM_001258332.1:c.543T= NP_001245261.1:p.Phe181=
NM_000155.4:c.870T= MANE Select NP_000146.2:p.Phe290=
NM_001258332.2:c.543T= NP_001245261.1:p.Phe181=