Canonical Allele Identifier: CA504730117
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399176-G-A
MyVariant Identifiers: chr19:g.1399175G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399176G>A , CM000681.2:g.1399176G>A GRCh38
NC_000019.9:g.1399175G>A , CM000681.1:g.1399175G>A GRCh37
NC_000019.8:g.1350175G>A NCBI36
NG_009785.1:g.7378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.411C>T MANE Select ENSP00000252288.1:p.Tyr137=
ENST00000447102.8:c.411C>T ENSP00000403536.2:p.Tyr137=
ENST00000591788.3:c.94C>T
ENST00000640164.1:n.244C>T
ENST00000640762.1:c.342C>T ENSP00000492031.1:p.Tyr114=
ENST00000252288.6:c.411C>T ENSP00000252288.1:p.Tyr137=
ENST00000447102.7:c.411C>T ENSP00000403536.2:p.Tyr137=
ENST00000591788.2:c.96C>T ENSP00000466341.2:p.Tyr32=
NM_000156.5:c.411C>T NP_000147.1:p.Tyr137=
NM_138924.2:c.411C>T NP_620279.1:p.Tyr137=
NM_000156.6:c.411C>T MANE Select NP_000147.1:p.Tyr137=
NM_138924.3:c.411C>T NP_620279.1:p.Tyr137=
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