Canonical Allele Identifier: CA2317699124
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399158G= , CM000681.2:g.1399158G= GRCh38
NC_000019.9:g.1399157G= , CM000681.1:g.1399157G= GRCh37
NC_000019.8:g.1350157G= NCBI36
NG_009785.1:g.7396C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.429C= MANE Select ENSP00000252288.1:p.Thr143=
ENST00000447102.8:c.429C= ENSP00000403536.2:p.Thr143=
ENST00000591788.3:c.112C=
ENST00000640164.1:n.262C=
ENST00000640762.1:c.360C= ENSP00000492031.1:p.Thr120=
ENST00000252288.6:c.429C= ENSP00000252288.1:p.Thr143=
ENST00000447102.7:c.429C= ENSP00000403536.2:p.Thr143=
ENST00000591788.2:c.114C= ENSP00000466341.2:p.Thr38=
NM_000156.5:c.429C= NP_000147.1:p.Thr143=
NM_138924.2:c.429C= NP_620279.1:p.Thr143=
NM_000156.6:c.429C= MANE Select NP_000147.1:p.Thr143=
NM_138924.3:c.429C= NP_620279.1:p.Thr143=
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