Canonical Allele Identifier: CA1239226588

Gene: POMC

Linked Data

• dbSNP Id: rs1671324306
• gnomAD v4: 2-25160937-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25160937T>G , CM000664.2:g.25160937T>G	GRCh38
NC_000002.11:g.25383806T>G , CM000664.1:g.25383806T>G	GRCh37
NC_000002.10:g.25237310T>G	NCBI36
NG_008997.1:g.12754A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.*144A>C MANE Select	ENSP00000379170.2:n.*144A>C
ENST00000380794.5:c.*144A>C	ENSP00000370171.1:n.*144A>C
ENST00000405623.5:c.*144A>C	ENSP00000384092.1:n.*144A>C
NM_000939.2:c.*144A>C	NP_000930.1:n.*144A>C
NM_001035256.1:c.*144A>C	NP_001030333.1:n.*144A>C
XM_011532917.1:c.*144A>C	XP_011531219.1:n.*144A>C
NM_000939.3:c.*144A>C	NP_000930.1:n.*144A>C
NM_001035256.2:c.*144A>C	NP_001030333.1:n.*144A>C
NM_001319204.1:c.*144A>C	NP_001306133.1:n.*144A>C
NM_001319205.1:c.*144A>C	NP_001306134.1:n.*144A>C
NM_000939.4:c.*144A>C MANE Select	NP_000930.1:n.*144A>C
NM_001319204.2:c.*144A>C	NP_001306133.1:n.*144A>C
NM_001319205.2:c.*144A>C	NP_001306134.1:n.*144A>C
NM_001035256.3:c.*144A>C	NP_001030333.1:n.*144A>C