Canonical Allele Identifier: CA8111232

Gene: AGRP ATP6V0D1-DT

Linked Data

• dbSNP Id: rs773319622
• ExAC: 16:67516594 G / A
• gnomAD v2: 16-67516594-G-A
• gnomAD v4: 16-67482691-G-A
• MyVariant Identifiers: chr16:g.67516594G>A (hg19) ; chr16:g.67482691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67482691G>A , CM000678.2:g.67482691G>A	GRCh38
NC_000016.9:g.67516594G>A , CM000678.1:g.67516594G>A	GRCh37
NC_000016.8:g.66074095G>A	NCBI36
NG_011482.1:g.3496C>T
NG_011501.1:g.6123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290953.3:c.344C>T (AGRP) MANE Select	ENSP00000290953.3:p.Ala115Val
ENST00000290953.2:c.344C>T (AGRP)	ENSP00000290953.2:p.Ala115Val
NM_001138.1:c.344C>T (AGRP)	NP_001129.1:p.Ala115Val
XM_011522927.1:c.344C>T (AGRP)	XP_011521229.1:p.Ala115Val
XR_243465.2:n.198+1172G>A (ATP6V0D1-DT)
XR_933690.1:n.199+1172G>A (ATP6V0D1-DT)
XR_933691.1:n.198+1172G>A (ATP6V0D1-DT)
XR_933692.1:n.200+1172G>A (ATP6V0D1-DT)
XR_001752246.1:n.193+1172G>A (ATP6V0D1-DT)
XR_001752247.1:n.193+1172G>A (ATP6V0D1-DT)
XR_001752248.1:n.195+1172G>A (ATP6V0D1-DT)
XR_001752249.1:n.193+1172G>A (ATP6V0D1-DT)
XR_001752250.1:n.193+1172G>A (ATP6V0D1-DT)
XR_933690.2:n.195+1172G>A (ATP6V0D1-DT)
XR_933691.2:n.201+1172G>A (ATP6V0D1-DT)
XR_933692.2:n.196+1172G>A (ATP6V0D1-DT)
NM_001138.2:c.344C>T (AGRP) MANE Select	NP_001129.1:p.Ala115Val