Canonical Allele Identifier: CA402995369

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399181-T-C
• MyVariant Identifiers: chr19:g.1399180T>C (hg19) ; chr19:g.1399181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399181T>C , CM000681.2:g.1399181T>C	GRCh38
NC_000019.9:g.1399180T>C , CM000681.1:g.1399180T>C	GRCh37
NC_000019.8:g.1350180T>C	NCBI36
NG_009785.1:g.7373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.406A>G MANE Select	ENSP00000252288.1:p.Thr136Ala
ENST00000447102.8:c.406A>G	ENSP00000403536.2:p.Thr136Ala
ENST00000591788.3:c.89A>G
ENST00000640164.1:n.239A>G
ENST00000640762.1:c.337A>G	ENSP00000492031.1:p.Thr113Ala
ENST00000252288.6:c.406A>G	ENSP00000252288.1:p.Thr136Ala
ENST00000447102.7:c.406A>G	ENSP00000403536.2:p.Thr136Ala
ENST00000591788.2:c.91A>G	ENSP00000466341.2:p.Thr31Ala
NM_000156.5:c.406A>G	NP_000147.1:p.Thr136Ala
NM_138924.2:c.406A>G	NP_620279.1:p.Thr136Ala
NM_000156.6:c.406A>G MANE Select	NP_000147.1:p.Thr136Ala
NM_138924.3:c.406A>G	NP_620279.1:p.Thr136Ala