Canonical Allele Identifier: CA340444

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5645
• ClinVar RCV Id: RCV000005999 ; RCV000727639 ; RCV000779687
• dbSNP Id: rs121908524
• ExAC: 2:241810796 T / A
• gnomAD v2: 2-241810796-T-A
• gnomAD v3: 2-240871379-T-A
• gnomAD v4: 2-240871379-T-A
• MyVariant Identifiers: chr2:g.241810796T>A (hg19) ; chr2:g.240871379T>A (hg38)
• PubMed: PMID:8101040 ; PMID:17460142 ; PMID:19155213 ; PMID:20301460 ; PMID:23229545 ; PMID:24988064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240871379T>A , CM000664.2:g.240871379T>A	GRCh38
NC_000002.11:g.241810796T>A , CM000664.1:g.241810796T>A	GRCh37
NC_000002.10:g.241459469T>A	NCBI36
NG_008005.1:g.7635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.454T>A MANE Select	ENSP00000302620.3:p.Phe152Ile
ENST00000307503.3:c.454T>A	ENSP00000302620.3:p.Phe152Ile
ENST00000472436.1:n.474T>A
ENST00000476698.1:n.191T>A
NM_000030.2:c.454T>A	NP_000021.1:p.Phe152Ile
NM_000030.3:c.454T>A MANE Select	NP_000021.1:p.Phe152Ile