Canonical Allele Identifier: CA275791

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204151
• ClinVar RCV Id: RCV000186358 ; RCV003688832
• dbSNP Id: rs796052067
• gnomAD v4: 2-240869363-G-T
• MyVariant Identifiers: chr2:g.241808780G>T (hg19) ; chr2:g.240869363G>T (hg38)
• PubMed: PMID:15253729

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869363G>T , CM000664.2:g.240869363G>T	GRCh38
NC_000002.11:g.241808780G>T , CM000664.1:g.241808780G>T	GRCh37
NC_000002.10:g.241457453G>T	NCBI36
NG_008005.1:g.5619G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+1G>T MANE Select	ENSP00000302620.3:n.358+1G>T
ENST00000307503.3:c.358+1G>T	ENSP00000302620.3:n.358+1G>T
ENST00000472436.1:n.378+1G>T
NM_000030.2:c.358+1G>T	NP_000021.1:n.358+1G>T
XR_924060.1:n.405+870C>A
NM_000030.3:c.358+1G>T MANE Select	NP_000021.1:n.358+1G>T