Canonical Allele Identifier: CA402994912
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1406576977
MyVariant Identifiers: chr19:g.1399129T>G (hg19) chr19:g.1399130T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399130T>G , CM000681.2:g.1399130T>G GRCh38
NC_000019.9:g.1399129T>G , CM000681.1:g.1399129T>G GRCh37
NC_000019.8:g.1350129T>G NCBI36
NG_009785.1:g.7424A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.457A>C MANE Select ENSP00000252288.1:p.Lys153Gln
ENST00000447102.8:c.457A>C ENSP00000403536.2:p.Lys153Gln
ENST00000591788.3:c.140A>C
ENST00000640164.1:n.290A>C
ENST00000640762.1:c.388A>C ENSP00000492031.1:p.Lys130Gln
ENST00000252288.6:c.457A>C ENSP00000252288.1:p.Lys153Gln
ENST00000447102.7:c.457A>C ENSP00000403536.2:p.Lys153Gln
ENST00000591788.2:c.142A>C ENSP00000466341.2:p.Lys48Gln
NM_000156.5:c.457A>C NP_000147.1:p.Lys153Gln
NM_138924.2:c.457A>C NP_620279.1:p.Lys153Gln
NM_000156.6:c.457A>C MANE Select NP_000147.1:p.Lys153Gln
NM_138924.3:c.457A>C NP_620279.1:p.Lys153Gln
Search 100 bp 5'
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