Canonical Allele Identifier: CA9043608

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2074731
• ClinVar RCV Id: RCV002962995
• dbSNP Id: rs766937218
• ExAC: 19:1398909 G / A
• gnomAD v4: 19-1398910-G-A
• MyVariant Identifiers: chr19:g.1398909G>A (hg19) ; chr19:g.1398910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398910G>A , CM000681.2:g.1398910G>A	GRCh38
NC_000019.9:g.1398909G>A , CM000681.1:g.1398909G>A	GRCh37
NC_000019.8:g.1349909G>A	NCBI36
NG_009785.1:g.7644C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+6C>T MANE Select	ENSP00000252288.1:n.570+6C>T
ENST00000447102.8:c.576C>T	ENSP00000403536.2:p.Arg192=
ENST00000591788.3:c.253+6C>T
ENST00000640164.1:n.403+6C>T
ENST00000640762.1:c.501+6C>T	ENSP00000492031.1:n.501+6C>T
ENST00000252288.6:c.570+6C>T	ENSP00000252288.1:n.570+6C>T
ENST00000447102.7:c.576C>T	ENSP00000403536.2:p.Arg192=
ENST00000591788.2:c.255+6C>T	ENSP00000466341.2:n.255+6C>T
NM_000156.5:c.570+6C>T	NP_000147.1:n.570+6C>T
NM_138924.2:c.576C>T	NP_620279.1:p.Arg192=
NM_000156.6:c.570+6C>T MANE Select	NP_000147.1:n.570+6C>T
NM_138924.3:c.576C>T	NP_620279.1:p.Arg192=