Canonical Allele Identifier: CA11214011
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs12473543

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25164312T>G , CM000664.2:g.25164312T>G GRCh38
NC_000002.11:g.25387181T>G , CM000664.1:g.25387181T>G GRCh37
NC_000002.10:g.25240685T>G NCBI36
NG_008997.1:g.9379A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.132+329A>C MANE Select ENSP00000379170.2:p.=
ENST00000264708.7:c.132+329A>C ENSP00000264708.3:p.=
ENST00000380794.5:c.132+329A>C ENSP00000370171.1:p.=
ENST00000395826.6:c.132+329A>C ENSP00000379170.2:p.=
ENST00000405623.5:c.132+329A>C ENSP00000384092.1:p.=
ENST00000449220.1:c.132+329A>C ENSP00000387993.1:p.=
NM_000939.2:c.132+329A>C NP_000930.1:p.=
NM_001035256.1:c.132+329A>C NP_001030333.1:p.=
XM_011532917.1:c.132+329A>C XP_011531219.1:p.=
NM_000939.3:c.132+329A>C NP_000930.1:p.=
NM_001035256.2:c.132+329A>C NP_001030333.1:p.=
NM_001319204.1:c.132+329A>C NP_001306133.1:p.=
NM_001319205.1:c.132+329A>C NP_001306134.1:p.=
NM_000939.4:c.132+329A>C MANE Select NP_000930.1:p.=
NM_001319204.2:c.132+329A>C NP_001306133.1:p.=
NM_001319205.2:c.132+329A>C NP_001306134.1:p.=
NM_001035256.3:c.132+329A>C NP_001030333.1:p.=