Canonical Allele Identifier: CA43684569
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs924300699
gnomAD v2: 2-25384236-G-A
gnomAD v4: 2-25161367-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161367G>A , CM000664.2:g.25161367G>A GRCh38
NC_000002.11:g.25384236G>A , CM000664.1:g.25384236G>A GRCh37
NC_000002.10:g.25237740G>A NCBI36
NG_008997.1:g.12324C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.518C>T MANE Select ENSP00000379170.2:p.Pro173Leu
ENST00000264708.7:c.518C>T ENSP00000264708.3:p.Pro173Leu
ENST00000380794.5:c.518C>T ENSP00000370171.1:p.Pro173Leu
ENST00000395826.6:c.518C>T ENSP00000379170.2:p.Pro173Leu
ENST00000405623.5:c.518C>T ENSP00000384092.1:p.Pro173Leu
ENST00000449220.1:c.518C>T ENSP00000387993.1:p.Pro173Leu
NM_000939.2:c.518C>T NP_000930.1:p.Pro173Leu
NM_001035256.1:c.518C>T NP_001030333.1:p.Pro173Leu
XM_011532917.1:c.518C>T XP_011531219.1:p.Pro173Leu
NM_000939.3:c.518C>T NP_000930.1:p.Pro173Leu
NM_001035256.2:c.518C>T NP_001030333.1:p.Pro173Leu
NM_001319204.1:c.518C>T NP_001306133.1:p.Pro173Leu
NM_001319205.1:c.518C>T NP_001306134.1:p.Pro173Leu
NM_000939.4:c.518C>T MANE Select NP_000930.1:p.Pro173Leu
NM_001319204.2:c.518C>T NP_001306133.1:p.Pro173Leu
NM_001319205.2:c.518C>T NP_001306134.1:p.Pro173Leu
NM_001035256.3:c.518C>T NP_001030333.1:p.Pro173Leu