Canonical Allele Identifier: CA1339333217
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1559569634
gnomAD v4: 2-240873281-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873281G>A , CM000664.2:g.240873281G>A GRCh38
NC_000002.11:g.241812698G>A , CM000664.1:g.241812698G>A GRCh37
NC_000002.10:g.241461371G>A NCBI36
NG_008005.1:g.9537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+232G>A MANE Select ENSP00000302620.3:n.595+232G>A
ENST00000307503.3:c.595+232G>A ENSP00000302620.3:n.595+232G>A
ENST00000472436.1:n.847G>A
ENST00000476698.1:n.332+232G>A
NM_000030.2:c.595+232G>A NP_000021.1:n.595+232G>A
NM_000030.3:c.595+232G>A MANE Select NP_000021.1:n.595+232G>A
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