Canonical Allele Identifier: CA68173306

Gene: AGXT

Linked Data

• dbSNP Id: rs570766216
• gnomAD v3: 2-240868690-G-A
• gnomAD v4: 2-240868690-G-A
• MyVariant Identifiers: chr2:g.241808107G>A (hg19) ; chr2:g.240868690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868690G>A , CM000664.2:g.240868690G>A	GRCh38
NC_000002.11:g.241808107G>A , CM000664.1:g.241808107G>A	GRCh37
NC_000002.10:g.241456780G>A	NCBI36
NG_008005.1:g.4946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-176G>A	ENSP00000302620.3:n.-176G>A
XR_924060.1:n.405+1543C>T