Canonical Allele Identifier: CA504895104
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2704489
ClinVar RCV Id: RCV003586699
gnomAD v4: 19-1398967-G-A
MyVariant Identifiers: chr19:g.1398966G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398967G>A , CM000681.2:g.1398967G>A GRCh38
NC_000019.9:g.1398966G>A , CM000681.1:g.1398966G>A GRCh37
NC_000019.8:g.1349966G>A NCBI36
NG_009785.1:g.7587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.519C>T MANE Select ENSP00000252288.1:p.Ser173=
ENST00000447102.8:c.519C>T ENSP00000403536.2:p.Ser173=
ENST00000591788.3:c.202C>T
ENST00000640164.1:n.352C>T
ENST00000640762.1:c.450C>T ENSP00000492031.1:p.Ser150=
ENST00000252288.6:c.519C>T ENSP00000252288.1:p.Ser173=
ENST00000447102.7:c.519C>T ENSP00000403536.2:p.Ser173=
ENST00000591788.2:c.204C>T ENSP00000466341.2:p.Ser68=
NM_000156.5:c.519C>T NP_000147.1:p.Ser173=
NM_138924.2:c.519C>T NP_620279.1:p.Ser173=
NM_000156.6:c.519C>T MANE Select NP_000147.1:p.Ser173=
NM_138924.3:c.519C>T NP_620279.1:p.Ser173=
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