Canonical Allele Identifier: CA2658162908
Gene: POMC HGNC NCBI

Linked Data

gnomAD v4: 2-25160857-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25160857T>G , CM000664.2:g.25160857T>G GRCh38
NC_000002.11:g.25383726T>G , CM000664.1:g.25383726T>G GRCh37
NC_000002.10:g.25237230T>G NCBI36
NG_008997.1:g.12834A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380794.5:c.*224A>C ENSP00000370171.1:n.*224A>C
NM_000939.2:c.*224A>C NP_000930.1:n.*224A>C
NM_001035256.1:c.*224A>C NP_001030333.1:n.*224A>C
NM_000939.3:c.*224A>C NP_000930.1:n.*224A>C
NM_001035256.2:c.*224A>C NP_001030333.1:n.*224A>C
NM_001319204.1:c.*224A>C NP_001306133.1:n.*224A>C
NM_001319205.1:c.*224A>C NP_001306134.1:n.*224A>C