Canonical Allele Identifier: CA314820

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205588
• ClinVar RCV Id: RCV000793466 ; RCV002354525 ; RCV001704993
• dbSNP Id: rs565109128
• ExAC: 19:1397482 G / A
• gnomAD v2: 19-1397482-G-A
• gnomAD v3: 19-1397483-G-A
• gnomAD v4: 19-1397483-G-A
• MyVariant Identifiers: chr19:g.1397482G>A (hg19) ; chr19:g.1397483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1397483G>A , CM000681.2:g.1397483G>A	GRCh38
NC_000019.9:g.1397482G>A , CM000681.1:g.1397482G>A	GRCh37
NC_000019.8:g.1348482G>A	NCBI36
NG_008283.1:g.18600G>A
NG_009785.1:g.9071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.587C>T MANE Select	ENSP00000252288.1:p.Ala196Val
ENST00000640164.1:n.420C>T
ENST00000640762.1:c.518C>T	ENSP00000492031.1:p.Ala173Val
ENST00000252288.6:c.587C>T	ENSP00000252288.1:p.Ala196Val
NM_000156.5:c.587C>T	NP_000147.1:p.Ala196Val
NM_000156.6:c.587C>T MANE Select	NP_000147.1:p.Ala196Val