Canonical Allele Identifier: CA2658162911

Gene: POMC

Linked Data

• gnomAD v4: 2-25160861-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25160861T>C , CM000664.2:g.25160861T>C	GRCh38
NC_000002.11:g.25383730T>C , CM000664.1:g.25383730T>C	GRCh37
NC_000002.10:g.25237234T>C	NCBI36
NG_008997.1:g.12830A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.*220A>G MANE Select	ENSP00000379170.2:n.*220A>G
ENST00000380794.5:c.*220A>G	ENSP00000370171.1:n.*220A>G
NM_000939.2:c.*220A>G	NP_000930.1:n.*220A>G
NM_001035256.1:c.*220A>G	NP_001030333.1:n.*220A>G
NM_000939.3:c.*220A>G	NP_000930.1:n.*220A>G
NM_001035256.2:c.*220A>G	NP_001030333.1:n.*220A>G
NM_001319204.1:c.*220A>G	NP_001306133.1:n.*220A>G
NM_001319205.1:c.*220A>G	NP_001306134.1:n.*220A>G
NM_000939.4:c.*220A>G MANE Select	NP_000930.1:n.*220A>G
NM_001319204.2:c.*220A>G	NP_001306133.1:n.*220A>G
NM_001319205.2:c.*220A>G	NP_001306134.1:n.*220A>G
NM_001035256.3:c.*220A>G	NP_001030333.1:n.*220A>G