Canonical Allele Identifier: CA2658163024
Gene: POMC HGNC NCBI

Linked Data

gnomAD v4: 2-25161005-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161005C>T , CM000664.2:g.25161005C>T GRCh38
NC_000002.11:g.25383874C>T , CM000664.1:g.25383874C>T GRCh37
NC_000002.10:g.25237378C>T NCBI36
NG_008997.1:g.12686G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.*76G>A MANE Select ENSP00000379170.2:n.*76G>A
ENST00000264708.7:c.*76G>A ENSP00000264708.3:n.*76G>A
ENST00000380794.5:c.*76G>A ENSP00000370171.1:n.*76G>A
ENST00000405623.5:c.*76G>A ENSP00000384092.1:n.*76G>A
NM_000939.2:c.*76G>A NP_000930.1:n.*76G>A
NM_001035256.1:c.*76G>A NP_001030333.1:n.*76G>A
XM_011532917.1:c.*76G>A XP_011531219.1:n.*76G>A
NM_000939.3:c.*76G>A NP_000930.1:n.*76G>A
NM_001035256.2:c.*76G>A NP_001030333.1:n.*76G>A
NM_001319204.1:c.*76G>A NP_001306133.1:n.*76G>A
NM_001319205.1:c.*76G>A NP_001306134.1:n.*76G>A
NM_000939.4:c.*76G>A MANE Select NP_000930.1:n.*76G>A
NM_001319204.2:c.*76G>A NP_001306133.1:n.*76G>A
NM_001319205.2:c.*76G>A NP_001306134.1:n.*76G>A
NM_001035256.3:c.*76G>A NP_001030333.1:n.*76G>A