Canonical Allele Identifier: CA9043721

Gene: GAMT

Linked Data

• ClinVar Variation Id: 328349
• ClinVar RCV Id: RCV000264765 ; RCV000437904 ; RCV000551075 ; RCV001705492
• dbSNP Id: rs371511930
• ExAC: 19:1399596 G / A
• gnomAD v2: 19-1399596-G-A
• gnomAD v3: 19-1399597-G-A
• gnomAD v4: 19-1399597-G-A
• MyVariant Identifiers: chr19:g.1399596G>A (hg19) ; chr19:g.1399597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399597G>A , CM000681.2:g.1399597G>A	GRCh38
NC_000019.9:g.1399596G>A , CM000681.1:g.1399596G>A	GRCh37
NC_000019.8:g.1350596G>A	NCBI36
NG_009785.1:g.6957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.328-10C>T MANE Select	ENSP00000252288.1:n.328-10C>T
ENST00000447102.8:c.328-10C>T	ENSP00000403536.2:n.328-10C>T
ENST00000591788.3:c.11-10C>T
ENST00000640164.1:n.151C>T
ENST00000640762.1:c.259-10C>T	ENSP00000492031.1:n.259-10C>T
ENST00000252288.6:c.328-10C>T	ENSP00000252288.1:n.328-10C>T
ENST00000447102.7:c.328-10C>T	ENSP00000403536.2:n.328-10C>T
ENST00000591788.2:c.13-10C>T	ENSP00000466341.2:n.13-10C>T
NM_000156.5:c.328-10C>T	NP_000147.1:n.328-10C>T
NM_138924.2:c.328-10C>T	NP_620279.1:n.328-10C>T
NM_000156.6:c.328-10C>T MANE Select	NP_000147.1:n.328-10C>T
NM_138924.3:c.328-10C>T	NP_620279.1:n.328-10C>T