Canonical Allele Identifier: CA2658162906
Gene: POMC HGNC NCBI

Linked Data

gnomAD v4: 2-25160856-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25160856G>C , CM000664.2:g.25160856G>C GRCh38
NC_000002.11:g.25383725G>C , CM000664.1:g.25383725G>C GRCh37
NC_000002.10:g.25237229G>C NCBI36
NG_008997.1:g.12835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380794.5:c.*225C>G ENSP00000370171.1:n.*225C>G
NM_000939.2:c.*225C>G NP_000930.1:n.*225C>G
NM_001035256.1:c.*225C>G NP_001030333.1:n.*225C>G
NM_000939.3:c.*225C>G NP_000930.1:n.*225C>G
NM_001035256.2:c.*225C>G NP_001030333.1:n.*225C>G
NM_001319204.1:c.*225C>G NP_001306133.1:n.*225C>G
NM_001319205.1:c.*225C>G NP_001306134.1:n.*225C>G