Canonical Allele Identifier: CA1339336283
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059043636
gnomAD v4: 2-240879052-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879052T>A , CM000664.2:g.240879052T>A GRCh38
NC_000002.11:g.241818469T>A , CM000664.1:g.241818469T>A GRCh37
NC_000002.10:g.241467142T>A NCBI36
NG_008005.1:g.15308T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*231T>A MANE Select ENSP00000302620.3:n.*231T>A
ENST00000307503.3:c.*231T>A ENSP00000302620.3:n.*231T>A
ENST00000470255.1:n.1188T>A
NM_000030.2:c.*231T>A NP_000021.1:n.*231T>A
NM_000030.3:c.*231T>A MANE Select NP_000021.1:n.*231T>A
Search 100 bp 5'
Search 100 bp 3'