Canonical Allele Identifier: CA68173257

Gene: AGXT

Linked Data

• dbSNP Id: rs544896164
• gnomAD v3: 2-240868550-A-T
• gnomAD v4: 2-240868550-A-T
• MyVariant Identifiers: chr2:g.241807967A>T (hg19) ; chr2:g.240868550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868550A>T , CM000664.2:g.240868550A>T	GRCh38
NC_000002.11:g.241807967A>T , CM000664.1:g.241807967A>T	GRCh37
NC_000002.10:g.241456640A>T	NCBI36
NG_008005.1:g.4806A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-316A>T	ENSP00000302620.3:n.-316A>T
XR_924060.1:n.405+1683T>A