Canonical Allele Identifier: CA432234850
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808351G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868934G>A , CM000664.2:g.240868934G>A GRCh38
NC_000002.11:g.241808351G>A , CM000664.1:g.241808351G>A GRCh37
NC_000002.10:g.241457024G>A NCBI36
NG_008005.1:g.5190G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.69G>A MANE Select ENSP00000302620.3:p.Gln23=
ENST00000307503.3:c.69G>A ENSP00000302620.3:p.Gln23=
ENST00000472436.1:n.89G>A
NM_000030.2:c.69G>A NP_000021.1:p.Gln23=
XR_924060.1:n.405+1299C>T
NM_000030.3:c.69G>A MANE Select NP_000021.1:p.Gln23=
Search 100 bp 5'
Search 100 bp 3'