Canonical Allele Identifier: CA402995104
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399149G>T (hg19) chr19:g.1399150G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399150G>T , CM000681.2:g.1399150G>T GRCh38
NC_000019.9:g.1399149G>T , CM000681.1:g.1399149G>T GRCh37
NC_000019.8:g.1350149G>T NCBI36
NG_009785.1:g.7404C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.437C>A MANE Select ENSP00000252288.1:p.Thr146Lys
ENST00000447102.8:c.437C>A ENSP00000403536.2:p.Thr146Lys
ENST00000591788.3:c.120C>A
ENST00000640164.1:n.270C>A
ENST00000640762.1:c.368C>A ENSP00000492031.1:p.Thr123Lys
ENST00000252288.6:c.437C>A ENSP00000252288.1:p.Thr146Lys
ENST00000447102.7:c.437C>A ENSP00000403536.2:p.Thr146Lys
ENST00000591788.2:c.122C>A ENSP00000466341.2:p.Thr41Lys
NM_000156.5:c.437C>A NP_000147.1:p.Thr146Lys
NM_138924.2:c.437C>A NP_620279.1:p.Thr146Lys
NM_000156.6:c.437C>A MANE Select NP_000147.1:p.Thr146Lys
NM_138924.3:c.437C>A NP_620279.1:p.Thr146Lys
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