Canonical Allele Identifier: CA275638

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204077
• ClinVar RCV Id: RCV000186283 ; RCV003230441 ; RCV003229816
• dbSNP Id: rs180177180
• ExAC: 2:241808588 T / A
• gnomAD v2: 2-241808588-T-A
• gnomAD v4: 2-240869171-T-A
• MyVariant Identifiers: chr2:g.241808588T>A (hg19) ; chr2:g.240869171T>A (hg38)
• PubMed: PMID:19479957 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869171T>A , CM000664.2:g.240869171T>A	GRCh38
NC_000002.11:g.241808588T>A , CM000664.1:g.241808588T>A	GRCh37
NC_000002.10:g.241457261T>A	NCBI36
NG_008005.1:g.5427T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.167T>A MANE Select	ENSP00000302620.3:p.Ile56Asn
ENST00000307503.3:c.167T>A	ENSP00000302620.3:p.Ile56Asn
ENST00000472436.1:n.187T>A
NM_000030.2:c.167T>A	NP_000021.1:p.Ile56Asn
XR_924060.1:n.405+1062A>T
NM_000030.3:c.167T>A MANE Select	NP_000021.1:p.Ile56Asn