Canonical Allele Identifier: CA8111222
Gene: AGRP HGNC NCBI
ATP6V0D1-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2394581
ClinVar RCV Id: RCV004226133
dbSNP Id: rs201485380

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67482644G>A , CM000678.2:g.67482644G>A GRCh38
NC_000016.9:g.67516547G>A , CM000678.1:g.67516547G>A GRCh37
NC_000016.8:g.66074048G>A NCBI36
NG_011482.1:g.3543C>T
NG_011501.1:g.6170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290953.3:c.391C>T (AGRP) MANE Select ENSP00000290953.3:p.Arg131Cys
ENST00000290953.2:c.391C>T (AGRP) ENSP00000290953.2:p.Arg131Cys
NM_001138.1:c.391C>T (AGRP) NP_001129.1:p.Arg131Cys
XM_011522927.1:c.391C>T (AGRP) XP_011521229.1:p.Arg131Cys
XR_243465.2:n.198+1125G>A (ATP6V0D1-DT)
XR_933690.1:n.199+1125G>A (ATP6V0D1-DT)
XR_933691.1:n.198+1125G>A (ATP6V0D1-DT)
XR_933692.1:n.200+1125G>A (ATP6V0D1-DT)
XR_001752246.1:n.193+1125G>A (ATP6V0D1-DT)
XR_001752247.1:n.193+1125G>A (ATP6V0D1-DT)
XR_001752248.1:n.195+1125G>A (ATP6V0D1-DT)
XR_001752249.1:n.193+1125G>A (ATP6V0D1-DT)
XR_001752250.1:n.193+1125G>A (ATP6V0D1-DT)
XR_933690.2:n.195+1125G>A (ATP6V0D1-DT)
XR_933691.2:n.201+1125G>A (ATP6V0D1-DT)
XR_933692.2:n.196+1125G>A (ATP6V0D1-DT)
NM_001138.2:c.391C>T (AGRP) MANE Select NP_001129.1:p.Arg131Cys