Canonical Allele Identifier: CA1044064520

Gene: AGXT

Linked Data

• dbSNP Id: rs2058974360
• gnomAD v3: 2-240868795-G-T
• gnomAD v4: 2-240868795-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868795G>T , CM000664.2:g.240868795G>T	GRCh38
NC_000002.11:g.241808212G>T , CM000664.1:g.241808212G>T	GRCh37
NC_000002.10:g.241456885G>T	NCBI36
NG_008005.1:g.5051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-71G>T	ENSP00000302620.3:n.-71G>T
NM_000030.2:c.-71G>T	NP_000021.1:n.-71G>T
XR_924060.1:n.405+1438C>A