Canonical Allele Identifier: CA68173300

Gene: AGXT

Linked Data

• dbSNP Id: rs956213662
• gnomAD v4: 2-240868674-C-T
• MyVariant Identifiers: chr2:g.241808091C>T (hg19) ; chr2:g.240868674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868674C>T , CM000664.2:g.240868674C>T	GRCh38
NC_000002.11:g.241808091C>T , CM000664.1:g.241808091C>T	GRCh37
NC_000002.10:g.241456764C>T	NCBI36
NG_008005.1:g.4930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-192C>T	ENSP00000302620.3:n.-192C>T
XR_924060.1:n.405+1559G>A