Canonical Allele Identifier: CA402994786
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399025T>A , CM000681.2:g.1399025T>A GRCh38
NC_000019.9:g.1399024T>A , CM000681.1:g.1399024T>A GRCh37
NC_000019.8:g.1350024T>A NCBI36
NG_009785.1:g.7529A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.461A>T MANE Select ENSP00000252288.1:p.Asn154Ile
ENST00000447102.8:c.461A>T ENSP00000403536.2:p.Asn154Ile
ENST00000591788.3:c.144A>T
ENST00000640164.1:n.294A>T
ENST00000640762.1:c.392A>T ENSP00000492031.1:p.Asn131Ile
ENST00000252288.6:c.461A>T ENSP00000252288.1:p.Asn154Ile
ENST00000447102.7:c.461A>T ENSP00000403536.2:p.Asn154Ile
ENST00000591788.2:c.146A>T ENSP00000466341.2:p.Asn49Ile
NM_000156.5:c.461A>T NP_000147.1:p.Asn154Ile
NM_138924.2:c.461A>T NP_620279.1:p.Asn154Ile
NM_000156.6:c.461A>T MANE Select NP_000147.1:p.Asn154Ile
NM_138924.3:c.461A>T NP_620279.1:p.Asn154Ile