Canonical Allele Identifier: CA1028505119

Gene: POMC

Linked Data

• dbSNP Id: rs753603070
• gnomAD v3: 2-25161057-T-G
• gnomAD v4: 2-25161057-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161057T>G , CM000664.2:g.25161057T>G	GRCh38
NC_000002.11:g.25383926T>G , CM000664.1:g.25383926T>G	GRCh37
NC_000002.10:g.25237430T>G	NCBI36
NG_008997.1:g.12634A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.*24A>C MANE Select	ENSP00000379170.2:n.*24A>C
ENST00000264708.7:c.*24A>C	ENSP00000264708.3:n.*24A>C
ENST00000380794.5:c.*24A>C	ENSP00000370171.1:n.*24A>C
ENST00000395826.6:c.*24A>C	ENSP00000379170.2:n.*24A>C
ENST00000405623.5:c.*24A>C	ENSP00000384092.1:n.*24A>C
NM_000939.2:c.*24A>C	NP_000930.1:n.*24A>C
NM_001035256.1:c.*24A>C	NP_001030333.1:n.*24A>C
XM_011532917.1:c.*24A>C	XP_011531219.1:n.*24A>C
NM_000939.3:c.*24A>C	NP_000930.1:n.*24A>C
NM_001035256.2:c.*24A>C	NP_001030333.1:n.*24A>C
NM_001319204.1:c.*24A>C	NP_001306133.1:n.*24A>C
NM_001319205.1:c.*24A>C	NP_001306134.1:n.*24A>C
NM_000939.4:c.*24A>C MANE Select	NP_000930.1:n.*24A>C
NM_001319204.2:c.*24A>C	NP_001306133.1:n.*24A>C
NM_001319205.2:c.*24A>C	NP_001306134.1:n.*24A>C
NM_001035256.3:c.*24A>C	NP_001030333.1:n.*24A>C