Canonical Allele Identifier: CA256772
Gene: POMC HGNC NCBI

Linked Data

ClinVar Variation Id: 13358
ClinVar RCV Id: RCV000014286
dbSNP Id: rs121918112
gnomAD v3: 2-25161734-T-A
gnomAD v4: 2-25161734-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161734T>A , CM000664.2:g.25161734T>A GRCh38
NC_000002.11:g.25384603T>A , CM000664.1:g.25384603T>A GRCh37
NC_000002.10:g.25238107T>A NCBI36
NG_008997.1:g.11957A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.151A>T MANE Select ENSP00000379170.2:p.Lys51Ter
ENST00000264708.7:c.151A>T ENSP00000264708.3:p.Lys51Ter
ENST00000380794.5:c.151A>T ENSP00000370171.1:p.Lys51Ter
ENST00000395826.6:c.151A>T ENSP00000379170.2:p.Lys51Ter
ENST00000405623.5:c.151A>T ENSP00000384092.1:p.Lys51Ter
ENST00000449220.1:c.151A>T ENSP00000387993.1:p.Lys51Ter
NM_000939.2:c.151A>T NP_000930.1:p.Lys51Ter
NM_001035256.1:c.151A>T NP_001030333.1:p.Lys51Ter
XM_011532917.1:c.151A>T XP_011531219.1:p.Lys51Ter
NM_000939.3:c.151A>T NP_000930.1:p.Lys51Ter
NM_001035256.2:c.151A>T NP_001030333.1:p.Lys51Ter
NM_001319204.1:c.151A>T NP_001306133.1:p.Lys51Ter
NM_001319205.1:c.151A>T NP_001306134.1:p.Lys51Ter
NM_000939.4:c.151A>T MANE Select NP_000930.1:p.Lys51Ter
NM_001319204.2:c.151A>T NP_001306133.1:p.Lys51Ter
NM_001319205.2:c.151A>T NP_001306134.1:p.Lys51Ter
NM_001035256.3:c.151A>T NP_001030333.1:p.Lys51Ter