Canonical Allele Identifier: CA304065958
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs966279657
gnomAD v4: 19-1398969-A-T
MyVariant Identifiers: chr19:g.1398968A>T (hg19) chr19:g.1398969A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398969A>T , CM000681.2:g.1398969A>T GRCh38
NC_000019.9:g.1398968A>T , CM000681.1:g.1398968A>T GRCh37
NC_000019.8:g.1349968A>T NCBI36
NG_009785.1:g.7585T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.517T>A MANE Select ENSP00000252288.1:p.Ser173Thr
ENST00000447102.8:c.517T>A ENSP00000403536.2:p.Ser173Thr
ENST00000591788.3:c.200T>A
ENST00000640164.1:n.350T>A
ENST00000640762.1:c.448T>A ENSP00000492031.1:p.Ser150Thr
ENST00000252288.6:c.517T>A ENSP00000252288.1:p.Ser173Thr
ENST00000447102.7:c.517T>A ENSP00000403536.2:p.Ser173Thr
ENST00000591788.2:c.202T>A ENSP00000466341.2:p.Ser68Thr
NM_000156.5:c.517T>A NP_000147.1:p.Ser173Thr
NM_138924.2:c.517T>A NP_620279.1:p.Ser173Thr
NM_000156.6:c.517T>A MANE Select NP_000147.1:p.Ser173Thr
NM_138924.3:c.517T>A NP_620279.1:p.Ser173Thr
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