Canonical Allele Identifier: CA10615033
Gene: POMC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 335352
dbSNP Id: rs1042571

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161018G>A , CM000664.2:g.25161018G>A GRCh38
NC_000002.11:g.25383887G>A , CM000664.1:g.25383887G>A GRCh37
NC_000002.10:g.25237391G>A NCBI36
NG_008997.1:g.12673C>T

Transcript Alleles

HGVS Amino-acid change
NM_000939.2:c.*63C>T VV NP_000930.1:p.=
NM_001035256.1:c.*63C>T VV NP_001030333.1:p.=
XM_011532917.1:c.*63C>T XP_011531219.1:p.=
NM_000939.3:c.*63C>T VV NP_000930.1:p.=
NM_001035256.2:c.*63C>T VV NP_001030333.1:p.=
NM_001319204.1:c.*63C>T VV NP_001306133.1:p.=
NM_001319205.1:c.*63C>T VV NP_001306134.1:p.=
NM_000939.4:c.*63C>T VV MANE Preferred NP_000930.1:p.=
ENST00000264708.7:c.*63C>T ENSP00000264708.3:p.=
ENST00000380794.5:c.*63C>T ENSP00000370171.1:p.=
ENST00000405623.5:c.*63C>T ENSP00000384092.1:p.=