Canonical Allele Identifier: CA402996176

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1008614
• ClinVar RCV Id: RCV001305979
• dbSNP Id: rs1298671907
• gnomAD v4: 19-1399812-G-A
• MyVariant Identifiers: chr19:g.1399811G>A (hg19) ; chr19:g.1399812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399812G>A , CM000681.2:g.1399812G>A	GRCh38
NC_000019.9:g.1399811G>A , CM000681.1:g.1399811G>A	GRCh37
NC_000019.8:g.1350811G>A	NCBI36
NG_009785.1:g.6742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.308C>T MANE Select	ENSP00000252288.1:p.Ala103Val
ENST00000447102.8:c.308C>T	ENSP00000403536.2:p.Ala103Val
ENST00000640762.1:c.239C>T	ENSP00000492031.1:p.Ala80Val
ENST00000252288.6:c.308C>T	ENSP00000252288.1:p.Ala103Val
ENST00000447102.7:c.308C>T	ENSP00000403536.2:p.Ala103Val
NM_000156.5:c.308C>T	NP_000147.1:p.Ala103Val
NM_138924.2:c.308C>T	NP_620279.1:p.Ala103Val
NM_000156.6:c.308C>T MANE Select	NP_000147.1:p.Ala103Val
NM_138924.3:c.308C>T	NP_620279.1:p.Ala103Val