Canonical Allele Identifier: CA2658163086

Gene: POMC

Linked Data

• gnomAD v4: 2-25161034-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161034G>T , CM000664.2:g.25161034G>T	GRCh38
NC_000002.11:g.25383903G>T , CM000664.1:g.25383903G>T	GRCh37
NC_000002.10:g.25237407G>T	NCBI36
NG_008997.1:g.12657C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.*47C>A MANE Select	ENSP00000379170.2:n.*47C>A
ENST00000264708.7:c.*47C>A	ENSP00000264708.3:n.*47C>A
ENST00000380794.5:c.*47C>A	ENSP00000370171.1:n.*47C>A
ENST00000405623.5:c.*47C>A	ENSP00000384092.1:n.*47C>A
NM_000939.2:c.*47C>A	NP_000930.1:n.*47C>A
NM_001035256.1:c.*47C>A	NP_001030333.1:n.*47C>A
XM_011532917.1:c.*47C>A	XP_011531219.1:n.*47C>A
NM_000939.3:c.*47C>A	NP_000930.1:n.*47C>A
NM_001035256.2:c.*47C>A	NP_001030333.1:n.*47C>A
NM_001319204.1:c.*47C>A	NP_001306133.1:n.*47C>A
NM_001319205.1:c.*47C>A	NP_001306134.1:n.*47C>A
NM_000939.4:c.*47C>A MANE Select	NP_000930.1:n.*47C>A
NM_001319204.2:c.*47C>A	NP_001306133.1:n.*47C>A
NM_001319205.2:c.*47C>A	NP_001306134.1:n.*47C>A
NM_001035256.3:c.*47C>A	NP_001030333.1:n.*47C>A