Canonical Allele Identifier: CA432022038
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869349-C-A
MyVariant Identifiers: chr2:g.241808766C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869349C>A , CM000664.2:g.240869349C>A GRCh38
NC_000002.11:g.241808766C>A , CM000664.1:g.241808766C>A GRCh37
NC_000002.10:g.241457439C>A NCBI36
NG_008005.1:g.5605C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.345C>A MANE Select ENSP00000302620.3:p.Ile115=
ENST00000307503.3:c.345C>A ENSP00000302620.3:p.Ile115=
ENST00000472436.1:n.365C>A
NM_000030.2:c.345C>A NP_000021.1:p.Ile115=
XR_924060.1:n.405+884G>T
NM_000030.3:c.345C>A MANE Select NP_000021.1:p.Ile115=
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