Canonical Allele Identifier: CA631044735

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1561621
• ClinVar RCV Id: RCV002198265
• dbSNP Id: rs1031492095
• gnomAD v2: 19-1399213-C-T
• gnomAD v4: 19-1399214-C-T
• MyVariant Identifiers: chr19:g.1399213C>T (hg19) ; chr19:g.1399214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399214C>T , CM000681.2:g.1399214C>T	GRCh38
NC_000019.9:g.1399213C>T , CM000681.1:g.1399213C>T	GRCh37
NC_000019.8:g.1350213C>T	NCBI36
NG_009785.1:g.7340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-19G>A MANE Select	ENSP00000252288.1:n.392-19G>A
ENST00000447102.8:c.392-19G>A	ENSP00000403536.2:n.392-19G>A
ENST00000591788.3:c.75-19G>A
ENST00000640164.1:n.225-19G>A
ENST00000640762.1:c.323-19G>A	ENSP00000492031.1:n.323-19G>A
ENST00000252288.6:c.392-19G>A	ENSP00000252288.1:n.392-19G>A
ENST00000447102.7:c.392-19G>A	ENSP00000403536.2:n.392-19G>A
ENST00000591788.2:c.77-19G>A	ENSP00000466341.2:n.77-19G>A
NM_000156.5:c.392-19G>A	NP_000147.1:n.392-19G>A
NM_138924.2:c.392-19G>A	NP_620279.1:n.392-19G>A
NM_000156.6:c.392-19G>A MANE Select	NP_000147.1:n.392-19G>A
NM_138924.3:c.392-19G>A	NP_620279.1:n.392-19G>A