Canonical Allele Identifier: CA2658162912

Gene: POMC

Linked Data

• gnomAD v4: 2-25160863-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25160863G>A , CM000664.2:g.25160863G>A	GRCh38
NC_000002.11:g.25383732G>A , CM000664.1:g.25383732G>A	GRCh37
NC_000002.10:g.25237236G>A	NCBI36
NG_008997.1:g.12828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.*218C>T MANE Select	ENSP00000379170.2:n.*218C>T
ENST00000380794.5:c.*218C>T	ENSP00000370171.1:n.*218C>T
NM_000939.2:c.*218C>T	NP_000930.1:n.*218C>T
NM_001035256.1:c.*218C>T	NP_001030333.1:n.*218C>T
NM_000939.3:c.*218C>T	NP_000930.1:n.*218C>T
NM_001035256.2:c.*218C>T	NP_001030333.1:n.*218C>T
NM_001319204.1:c.*218C>T	NP_001306133.1:n.*218C>T
NM_001319205.1:c.*218C>T	NP_001306134.1:n.*218C>T
NM_000939.4:c.*218C>T MANE Select	NP_000930.1:n.*218C>T
NM_001319204.2:c.*218C>T	NP_001306133.1:n.*218C>T
NM_001319205.2:c.*218C>T	NP_001306134.1:n.*218C>T
NM_001035256.3:c.*218C>T	NP_001030333.1:n.*218C>T