Canonical Allele Identifier: CA402995119
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399153T>A , CM000681.2:g.1399153T>A GRCh38
NC_000019.9:g.1399152T>A , CM000681.1:g.1399152T>A GRCh37
NC_000019.8:g.1350152T>A NCBI36
NG_009785.1:g.7401A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.434A>T MANE Select ENSP00000252288.1:p.His145Leu
ENST00000447102.8:c.434A>T ENSP00000403536.2:p.His145Leu
ENST00000591788.3:c.117A>T
ENST00000640164.1:n.267A>T
ENST00000640762.1:c.365A>T ENSP00000492031.1:p.His122Leu
ENST00000252288.6:c.434A>T ENSP00000252288.1:p.His145Leu
ENST00000447102.7:c.434A>T ENSP00000403536.2:p.His145Leu
ENST00000591788.2:c.119A>T ENSP00000466341.2:p.His40Leu
NM_000156.5:c.434A>T NP_000147.1:p.His145Leu
NM_138924.2:c.434A>T NP_620279.1:p.His145Leu
NM_000156.6:c.434A>T MANE Select NP_000147.1:p.His145Leu
NM_138924.3:c.434A>T NP_620279.1:p.His145Leu