Canonical Allele Identifier: CA402994925

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399130-T-C
• COSMIC: COSM3692398 ; COSM3692399
• MyVariant Identifiers: chr19:g.1399129T>C (hg19) ; chr19:g.1399130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399130T>C , CM000681.2:g.1399130T>C	GRCh38
NC_000019.9:g.1399129T>C , CM000681.1:g.1399129T>C	GRCh37
NC_000019.8:g.1350129T>C	NCBI36
NG_009785.1:g.7424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.457A>G MANE Select	ENSP00000252288.1:p.Lys153Glu
ENST00000447102.8:c.457A>G	ENSP00000403536.2:p.Lys153Glu
ENST00000591788.3:c.140A>G
ENST00000640164.1:n.290A>G
ENST00000640762.1:c.388A>G	ENSP00000492031.1:p.Lys130Glu
ENST00000252288.6:c.457A>G	ENSP00000252288.1:p.Lys153Glu
ENST00000447102.7:c.457A>G	ENSP00000403536.2:p.Lys153Glu
ENST00000591788.2:c.142A>G	ENSP00000466341.2:p.Lys48Glu
NM_000156.5:c.457A>G	NP_000147.1:p.Lys153Glu
NM_138924.2:c.457A>G	NP_620279.1:p.Lys153Glu
NM_000156.6:c.457A>G MANE Select	NP_000147.1:p.Lys153Glu
NM_138924.3:c.457A>G	NP_620279.1:p.Lys153Glu