Canonical Allele Identifier: CA314796

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205576
• ClinVar RCV Id: RCV000187560 ; RCV001127003 ; RCV001088002 ; RCV002453689
• dbSNP Id: rs751099274
• ExAC: 19:1399877 G / A
• gnomAD v2: 19-1399877-G-A
• gnomAD v3: 19-1399878-G-A
• gnomAD v4: 19-1399878-G-A
• MyVariant Identifiers: chr19:g.1399877G>A (hg19) ; chr19:g.1399878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399878G>A , CM000681.2:g.1399878G>A	GRCh38
NC_000019.9:g.1399877G>A , CM000681.1:g.1399877G>A	GRCh37
NC_000019.8:g.1350877G>A	NCBI36
NG_009785.1:g.6676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.242C>T MANE Select	ENSP00000252288.1:p.Ala81Val
ENST00000447102.8:c.242C>T	ENSP00000403536.2:p.Ala81Val
ENST00000640762.1:c.173C>T	ENSP00000492031.1:p.Ala58Val
ENST00000252288.6:c.242C>T	ENSP00000252288.1:p.Ala81Val
ENST00000447102.7:c.242C>T	ENSP00000403536.2:p.Ala81Val
NM_000156.5:c.242C>T	NP_000147.1:p.Ala81Val
NM_138924.2:c.242C>T	NP_620279.1:p.Ala81Val
NM_000156.6:c.242C>T MANE Select	NP_000147.1:p.Ala81Val
NM_138924.3:c.242C>T	NP_620279.1:p.Ala81Val