Canonical Allele Identifier: CA396267816
Gene: AGRP HGNC NCBI
ATP6V0D1-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67482645G>T , CM000678.2:g.67482645G>T GRCh38
NC_000016.9:g.67516548G>T , CM000678.1:g.67516548G>T GRCh37
NC_000016.8:g.66074049G>T NCBI36
NG_011482.1:g.3542C>A
NG_011501.1:g.6169C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290953.3:c.390C>A (AGRP) MANE Select ENSP00000290953.3:p.Ser130Arg
ENST00000290953.2:c.390C>A (AGRP) ENSP00000290953.2:p.Ser130Arg
NM_001138.1:c.390C>A (AGRP) NP_001129.1:p.Ser130Arg
XM_011522927.1:c.390C>A (AGRP) XP_011521229.1:p.Ser130Arg
XR_243465.2:n.198+1126G>T (ATP6V0D1-DT)
XR_933690.1:n.199+1126G>T (ATP6V0D1-DT)
XR_933691.1:n.198+1126G>T (ATP6V0D1-DT)
XR_933692.1:n.200+1126G>T (ATP6V0D1-DT)
XR_001752246.1:n.193+1126G>T (ATP6V0D1-DT)
XR_001752247.1:n.193+1126G>T (ATP6V0D1-DT)
XR_001752248.1:n.195+1126G>T (ATP6V0D1-DT)
XR_001752249.1:n.193+1126G>T (ATP6V0D1-DT)
XR_001752250.1:n.193+1126G>T (ATP6V0D1-DT)
XR_933690.2:n.195+1126G>T (ATP6V0D1-DT)
XR_933691.2:n.201+1126G>T (ATP6V0D1-DT)
XR_933692.2:n.196+1126G>T (ATP6V0D1-DT)
NM_001138.2:c.390C>A (AGRP) MANE Select NP_001129.1:p.Ser130Arg