Canonical Allele Identifier: CA275544

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204018
• ClinVar RCV Id: RCV000186220 ; RCV000884267 ; RCV003416113
• dbSNP Id: rs34116584
• ExAC: 2:241808314 C / A
• gnomAD v2: 2-241808314-C-A
• gnomAD v3: 2-240868897-C-A
• gnomAD v4: 2-240868897-C-A
• MyVariant Identifiers: chr2:g.241808314C>A (hg19) ; chr2:g.240868897C>A (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868897C>A , CM000664.2:g.240868897C>A	GRCh38
NC_000002.11:g.241808314C>A , CM000664.1:g.241808314C>A	GRCh37
NC_000002.10:g.241456987C>A	NCBI36
NG_008005.1:g.5153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.32C>A MANE Select	ENSP00000302620.3:p.Pro11His
ENST00000307503.3:c.32C>A	ENSP00000302620.3:p.Pro11His
ENST00000472436.1:n.52C>A
NM_000030.2:c.32C>A	NP_000021.1:p.Pro11His
XR_924060.1:n.405+1336G>T
NM_000030.3:c.32C>A MANE Select	NP_000021.1:p.Pro11His