Canonical Allele Identifier: CA402995286

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399170A>T (hg19) ; chr19:g.1399171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399171A>T , CM000681.2:g.1399171A>T	GRCh38
NC_000019.9:g.1399170A>T , CM000681.1:g.1399170A>T	GRCh37
NC_000019.8:g.1350170A>T	NCBI36
NG_009785.1:g.7383T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.416T>A MANE Select	ENSP00000252288.1:p.Leu139His
ENST00000447102.8:c.416T>A	ENSP00000403536.2:p.Leu139His
ENST00000591788.3:c.99T>A
ENST00000640164.1:n.249T>A
ENST00000640762.1:c.347T>A	ENSP00000492031.1:p.Leu116His
ENST00000252288.6:c.416T>A	ENSP00000252288.1:p.Leu139His
ENST00000447102.7:c.416T>A	ENSP00000403536.2:p.Leu139His
ENST00000591788.2:c.101T>A	ENSP00000466341.2:p.Leu34His
NM_000156.5:c.416T>A	NP_000147.1:p.Leu139His
NM_138924.2:c.416T>A	NP_620279.1:p.Leu139His
NM_000156.6:c.416T>A MANE Select	NP_000147.1:p.Leu139His
NM_138924.3:c.416T>A	NP_620279.1:p.Leu139His