Canonical Allele Identifier: CA402994686

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1335317
• ClinVar RCV Id: RCV001816225 ; RCV003159214
• dbSNP Id: rs2144636453
• MyVariant Identifiers: chr19:g.1399009A>G (hg19) ; chr19:g.1399010A>G (hg38)
• ERepo: CA402994686/MONDO:0012999/026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399010A>G , CM000681.2:g.1399010A>G	GRCh38
NC_000019.9:g.1399009A>G , CM000681.1:g.1399009A>G	GRCh37
NC_000019.8:g.1350009A>G	NCBI36
NG_009785.1:g.7544T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.476T>C MANE Select	ENSP00000252288.1:p.Leu159Pro
ENST00000447102.8:c.476T>C	ENSP00000403536.2:p.Leu159Pro
ENST00000591788.3:c.159T>C
ENST00000640164.1:n.309T>C
ENST00000640762.1:c.407T>C	ENSP00000492031.1:p.Leu136Pro
ENST00000252288.6:c.476T>C	ENSP00000252288.1:p.Leu159Pro
ENST00000447102.7:c.476T>C	ENSP00000403536.2:p.Leu159Pro
ENST00000591788.2:c.161T>C	ENSP00000466341.2:p.Leu54Pro
NM_000156.5:c.476T>C	NP_000147.1:p.Leu159Pro
NM_138924.2:c.476T>C	NP_620279.1:p.Leu159Pro
NM_000156.6:c.476T>C MANE Select	NP_000147.1:p.Leu159Pro
NM_138924.3:c.476T>C	NP_620279.1:p.Leu159Pro