Canonical Allele Identifier: CA351315997
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240871415-C-A
MyVariant Identifiers: chr2:g.241810832C>A (hg19) chr2:g.240871415C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871415C>A , CM000664.2:g.240871415C>A GRCh38
NC_000002.11:g.241810832C>A , CM000664.1:g.241810832C>A GRCh37
NC_000002.10:g.241459505C>A NCBI36
NG_008005.1:g.7671C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.490C>A MANE Select ENSP00000302620.3:p.Gln164Lys
ENST00000307503.3:c.490C>A ENSP00000302620.3:p.Gln164Lys
ENST00000472436.1:n.510C>A
ENST00000476698.1:n.227C>A
NM_000030.2:c.490C>A NP_000021.1:p.Gln164Lys
NM_000030.3:c.490C>A MANE Select NP_000021.1:p.Gln164Lys
Search 100 bp 5'
Search 100 bp 3'