Canonical Allele Identifier: CA1239231984

Gene: POMC

Linked Data

• dbSNP Id: rs1244390679

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25164821C>G , CM000664.2:g.25164821C>G	GRCh38
NC_000002.11:g.25387690C>G , CM000664.1:g.25387690C>G	GRCh37
NC_000002.10:g.25241194C>G	NCBI36
NG_008997.1:g.8870G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.-20-29G>C MANE Select	ENSP00000379170.2:n.-20-29G>C
ENST00000264708.7:c.-49G>C	ENSP00000264708.3:n.-49G>C
ENST00000380794.5:c.-20-29G>C	ENSP00000370171.1:n.-20-29G>C
ENST00000395826.6:c.-20-29G>C	ENSP00000379170.2:n.-20-29G>C
ENST00000405623.5:c.-49G>C	ENSP00000384092.1:n.-49G>C
ENST00000449220.1:c.-20-29G>C	ENSP00000387993.1:n.-20-29G>C
NM_000939.2:c.-20-29G>C	NP_000930.1:n.-20-29G>C
NM_001035256.1:c.-20-29G>C	NP_001030333.1:n.-20-29G>C
XM_011532917.1:c.-49G>C	XP_011531219.1:n.-49G>C
NM_000939.3:c.-20-29G>C	NP_000930.1:n.-20-29G>C
NM_001035256.2:c.-20-29G>C	NP_001030333.1:n.-20-29G>C
NM_001319204.1:c.-49G>C	NP_001306133.1:n.-49G>C
NM_001319205.1:c.-49G>C	NP_001306134.1:n.-49G>C
NM_000939.4:c.-20-29G>C MANE Select	NP_000930.1:n.-20-29G>C
NM_001319204.2:c.-49G>C	NP_001306133.1:n.-49G>C
NM_001319205.2:c.-49G>C	NP_001306134.1:n.-49G>C
NM_001035256.3:c.-20-29G>C	NP_001030333.1:n.-20-29G>C