Canonical Allele Identifier: CA396269220
Gene: AGRP HGNC NCBI
ATP6V0D1-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67482809G>C , CM000678.2:g.67482809G>C GRCh38
NC_000016.9:g.67516712G>C , CM000678.1:g.67516712G>C GRCh37
NC_000016.8:g.66074213G>C NCBI36
NG_011482.1:g.3378C>G
NG_011501.1:g.6005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290953.3:c.226C>G (AGRP) MANE Select ENSP00000290953.3:p.Leu76Val
ENST00000290953.2:c.226C>G (AGRP) ENSP00000290953.2:p.Leu76Val
NM_001138.1:c.226C>G (AGRP) NP_001129.1:p.Leu76Val
XM_011522927.1:c.226C>G (AGRP) XP_011521229.1:p.Leu76Val
XR_243465.2:n.198+1290G>C (ATP6V0D1-DT)
XR_933690.1:n.199+1290G>C (ATP6V0D1-DT)
XR_933691.1:n.198+1290G>C (ATP6V0D1-DT)
XR_933692.1:n.200+1290G>C (ATP6V0D1-DT)
XR_001752246.1:n.193+1290G>C (ATP6V0D1-DT)
XR_001752247.1:n.193+1290G>C (ATP6V0D1-DT)
XR_001752248.1:n.195+1290G>C (ATP6V0D1-DT)
XR_001752249.1:n.193+1290G>C (ATP6V0D1-DT)
XR_001752250.1:n.193+1290G>C (ATP6V0D1-DT)
XR_933690.2:n.195+1290G>C (ATP6V0D1-DT)
XR_933691.2:n.201+1290G>C (ATP6V0D1-DT)
XR_933692.2:n.196+1290G>C (ATP6V0D1-DT)
NM_001138.2:c.226C>G (AGRP) MANE Select NP_001129.1:p.Leu76Val