Canonical Allele Identifier: CA1028505065

Gene: POMC

Linked Data

• dbSNP Id: rs1671324892
• gnomAD v3: 2-25160962-A-T
• gnomAD v4: 2-25160962-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25160962A>T , CM000664.2:g.25160962A>T	GRCh38
NC_000002.11:g.25383831A>T , CM000664.1:g.25383831A>T	GRCh37
NC_000002.10:g.25237335A>T	NCBI36
NG_008997.1:g.12729T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.*119T>A MANE Select	ENSP00000379170.2:n.*119T>A
ENST00000380794.5:c.*119T>A	ENSP00000370171.1:n.*119T>A
ENST00000405623.5:c.*119T>A	ENSP00000384092.1:n.*119T>A
NM_000939.2:c.*119T>A	NP_000930.1:n.*119T>A
NM_001035256.1:c.*119T>A	NP_001030333.1:n.*119T>A
XM_011532917.1:c.*119T>A	XP_011531219.1:n.*119T>A
NM_000939.3:c.*119T>A	NP_000930.1:n.*119T>A
NM_001035256.2:c.*119T>A	NP_001030333.1:n.*119T>A
NM_001319204.1:c.*119T>A	NP_001306133.1:n.*119T>A
NM_001319205.1:c.*119T>A	NP_001306134.1:n.*119T>A
NM_000939.4:c.*119T>A MANE Select	NP_000930.1:n.*119T>A
NM_001319204.2:c.*119T>A	NP_001306133.1:n.*119T>A
NM_001319205.2:c.*119T>A	NP_001306134.1:n.*119T>A
NM_001035256.3:c.*119T>A	NP_001030333.1:n.*119T>A