Canonical Allele Identifier: CA402994446
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398971T>G (hg19) chr19:g.1398972T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398972T>G , CM000681.2:g.1398972T>G GRCh38
NC_000019.9:g.1398971T>G , CM000681.1:g.1398971T>G GRCh37
NC_000019.8:g.1349971T>G NCBI36
NG_009785.1:g.7582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.514A>C MANE Select ENSP00000252288.1:p.Thr172Pro
ENST00000447102.8:c.514A>C ENSP00000403536.2:p.Thr172Pro
ENST00000591788.3:c.197A>C
ENST00000640164.1:n.347A>C
ENST00000640762.1:c.445A>C ENSP00000492031.1:p.Thr149Pro
ENST00000252288.6:c.514A>C ENSP00000252288.1:p.Thr172Pro
ENST00000447102.7:c.514A>C ENSP00000403536.2:p.Thr172Pro
ENST00000591788.2:c.199A>C ENSP00000466341.2:p.Thr67Pro
NM_000156.5:c.514A>C NP_000147.1:p.Thr172Pro
NM_138924.2:c.514A>C NP_620279.1:p.Thr172Pro
NM_000156.6:c.514A>C MANE Select NP_000147.1:p.Thr172Pro
NM_138924.3:c.514A>C NP_620279.1:p.Thr172Pro
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