Canonical Allele Identifier: CA1555407
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs758258712
gnomAD v2: 2-25387552-C-G
gnomAD v3: 2-25164683-C-G
gnomAD v4: 2-25164683-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25164683C>G , CM000664.2:g.25164683C>G GRCh38
NC_000002.11:g.25387552C>G , CM000664.1:g.25387552C>G GRCh37
NC_000002.10:g.25241056C>G NCBI36
NG_008997.1:g.9008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.90G>C MANE Select ENSP00000379170.2:p.Glu30Asp
ENST00000264708.7:c.90G>C ENSP00000264708.3:p.Glu30Asp
ENST00000380794.5:c.90G>C ENSP00000370171.1:p.Glu30Asp
ENST00000395826.6:c.90G>C ENSP00000379170.2:p.Glu30Asp
ENST00000405623.5:c.90G>C ENSP00000384092.1:p.Glu30Asp
ENST00000449220.1:c.90G>C ENSP00000387993.1:p.Glu30Asp
NM_000939.2:c.90G>C NP_000930.1:p.Glu30Asp
NM_001035256.1:c.90G>C NP_001030333.1:p.Glu30Asp
XM_011532917.1:c.90G>C XP_011531219.1:p.Glu30Asp
NM_000939.3:c.90G>C NP_000930.1:p.Glu30Asp
NM_001035256.2:c.90G>C NP_001030333.1:p.Glu30Asp
NM_001319204.1:c.90G>C NP_001306133.1:p.Glu30Asp
NM_001319205.1:c.90G>C NP_001306134.1:p.Glu30Asp
NM_000939.4:c.90G>C MANE Select NP_000930.1:p.Glu30Asp
NM_001319204.2:c.90G>C NP_001306133.1:p.Glu30Asp
NM_001319205.2:c.90G>C NP_001306134.1:p.Glu30Asp
NM_001035256.3:c.90G>C NP_001030333.1:p.Glu30Asp