Canonical Allele Identifier: CA1139655794
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 951893
ClinVar RCV Id: RCV001223894 RCV003145421
dbSNP Id: rs2059037657
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878052del , CM000664.2:g.240878052del GRCh38
NC_000002.11:g.241817469del , CM000664.1:g.241817469del GRCh37
NC_000002.10:g.241466142del NCBI36
NG_008005.1:g.14308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.973del MANE Select ENSP00000302620.3:p.Ala325LeufsTer16
ENST00000307503.3:c.973del ENSP00000302620.3:p.Ala325LeufsTer16
ENST00000470255.1:n.751del
NM_000030.2:c.973del NP_000021.1:p.Ala325LeufsTer16
NM_000030.3:c.973del MANE Select NP_000021.1:p.Ala325LeufsTer16
Search 100 bp 5'
Search 100 bp 3'