Canonical Allele Identifier: CA351317917
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240875118-G-A
MyVariant Identifiers: chr2:g.241814535G>A (hg19) chr2:g.240875118G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875118G>A , CM000664.2:g.240875118G>A GRCh38
NC_000002.11:g.241814535G>A , CM000664.1:g.241814535G>A GRCh37
NC_000002.10:g.241463208G>A NCBI36
NG_008005.1:g.11374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.690G>A MANE Select ENSP00000302620.3:p.Met230Ile
ENST00000307503.3:c.690G>A ENSP00000302620.3:p.Met230Ile
ENST00000476698.1:n.342G>A
NM_000030.2:c.690G>A NP_000021.1:p.Met230Ile
NM_000030.3:c.690G>A MANE Select NP_000021.1:p.Met230Ile
Search 100 bp 5'
Search 100 bp 3'