Canonical Allele Identifier: CA402994900
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399128T>A (hg19) chr19:g.1399129T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399129T>A , CM000681.2:g.1399129T>A GRCh38
NC_000019.9:g.1399128T>A , CM000681.1:g.1399128T>A GRCh37
NC_000019.8:g.1350128T>A NCBI36
NG_009785.1:g.7425A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.458A>T MANE Select ENSP00000252288.1:p.Lys153Met
ENST00000447102.8:c.458A>T ENSP00000403536.2:p.Lys153Met
ENST00000591788.3:c.141A>T
ENST00000640164.1:n.291A>T
ENST00000640762.1:c.389A>T ENSP00000492031.1:p.Lys130Met
ENST00000252288.6:c.458A>T ENSP00000252288.1:p.Lys153Met
ENST00000447102.7:c.458A>T ENSP00000403536.2:p.Lys153Met
ENST00000591788.2:c.143A>T ENSP00000466341.2:p.Lys48Met
NM_000156.5:c.458A>T NP_000147.1:p.Lys153Met
NM_138924.2:c.458A>T NP_620279.1:p.Lys153Met
NM_000156.6:c.458A>T MANE Select NP_000147.1:p.Lys153Met
NM_138924.3:c.458A>T NP_620279.1:p.Lys153Met
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