Canonical Allele Identifier: CA275789
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204150
ClinVar RCV Id: RCV000186357
dbSNP Id: rs180177165

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878793T>C , CM000664.2:g.240878793T>C GRCh38
NC_000002.11:g.241818210T>C , CM000664.1:g.241818210T>C GRCh37
NC_000002.10:g.241466883T>C NCBI36
NG_008005.1:g.15049T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1151T>C MANE Select ENSP00000302620.3:p.Leu384Pro
ENST00000307503.3:c.1151T>C ENSP00000302620.3:p.Leu384Pro
ENST00000470255.1:n.929T>C
NM_000030.2:c.1151T>C NP_000021.1:p.Leu384Pro
NM_000030.3:c.1151T>C MANE Select NP_000021.1:p.Leu384Pro