Canonical Allele Identifier: CA314816

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205586
• ClinVar RCV Id: RCV000187571 ; RCV001378842 ; RCV001833115
• dbSNP Id: rs796052525
• gnomAD v4: 19-1398960-C-A
• MyVariant Identifiers: chr19:g.1398959C>A (hg19) ; chr19:g.1398960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398960C>A , CM000681.2:g.1398960C>A	GRCh38
NC_000019.9:g.1398959C>A , CM000681.1:g.1398959C>A	GRCh37
NC_000019.8:g.1349959C>A	NCBI36
NG_009785.1:g.7594G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.526G>T MANE Select	ENSP00000252288.1:p.Glu176Ter
ENST00000447102.8:c.526G>T	ENSP00000403536.2:p.Glu176Ter
ENST00000591788.3:c.209G>T
ENST00000640164.1:n.359G>T
ENST00000640762.1:c.457G>T	ENSP00000492031.1:p.Glu153Ter
ENST00000252288.6:c.526G>T	ENSP00000252288.1:p.Glu176Ter
ENST00000447102.7:c.526G>T	ENSP00000403536.2:p.Glu176Ter
ENST00000591788.2:c.211G>T	ENSP00000466341.2:p.Glu71Ter
NM_000156.5:c.526G>T	NP_000147.1:p.Glu176Ter
NM_138924.2:c.526G>T	NP_620279.1:p.Glu176Ter
NM_000156.6:c.526G>T MANE Select	NP_000147.1:p.Glu176Ter
NM_138924.3:c.526G>T	NP_620279.1:p.Glu176Ter