Canonical Allele Identifier: CA504730106
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399169G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399170G>C , CM000681.2:g.1399170G>C GRCh38
NC_000019.9:g.1399169G>C , CM000681.1:g.1399169G>C GRCh37
NC_000019.8:g.1350169G>C NCBI36
NG_009785.1:g.7384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.417C>G MANE Select ENSP00000252288.1:p.Leu139=
ENST00000447102.8:c.417C>G ENSP00000403536.2:p.Leu139=
ENST00000591788.3:c.100C>G
ENST00000640164.1:n.250C>G
ENST00000640762.1:c.348C>G ENSP00000492031.1:p.Leu116=
ENST00000252288.6:c.417C>G ENSP00000252288.1:p.Leu139=
ENST00000447102.7:c.417C>G ENSP00000403536.2:p.Leu139=
ENST00000591788.2:c.102C>G ENSP00000466341.2:p.Leu34=
NM_000156.5:c.417C>G NP_000147.1:p.Leu139=
NM_138924.2:c.417C>G NP_620279.1:p.Leu139=
NM_000156.6:c.417C>G MANE Select NP_000147.1:p.Leu139=
NM_138924.3:c.417C>G NP_620279.1:p.Leu139=
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