Canonical Allele Identifier: CA402995388
Community Standard Title: NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399184C>A , CM000681.2:g.1399184C>A GRCh38
NC_000019.9:g.1399183C>A , CM000681.1:g.1399183C>A GRCh37
NC_000019.8:g.1350183C>A NCBI36
NG_009785.1:g.7370G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000156.6:c.403G>T MANE Select NP_000147.1:p.Asp135Tyr
ENST00000252288.8:c.403G>T MANE Select ENSP00000252288.1:p.Asp135Tyr
NM_000156.5:c.403G>T NP_000147.1:p.Asp135Tyr
NM_138924.2:c.403G>T NP_620279.1:p.Asp135Tyr
NM_138924.3:c.403G>T NP_620279.1:p.Asp135Tyr
ENST00000252288.6:c.403G>T ENSP00000252288.1:p.Asp135Tyr
ENST00000447102.7:c.403G>T ENSP00000403536.2:p.Asp135Tyr
ENST00000447102.8:c.403G>T ENSP00000403536.2:p.Asp135Tyr
ENST00000591788.2:c.88G>T ENSP00000466341.2:p.Asp30Tyr
ENST00000591788.3:c.86G>T
ENST00000640164.1:n.236G>T
ENST00000640762.1:c.334G>T ENSP00000492031.1:p.Asp112Tyr
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