Canonical Allele Identifier: CA43687861
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs3769671

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25167284A>C , CM000664.2:g.25167284A>C GRCh38
NC_000002.11:g.25390153A>C , CM000664.1:g.25390153A>C GRCh37
NC_000002.10:g.25243657A>C NCBI36
NG_008997.1:g.6407T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.-21+1214T>G MANE Select ENSP00000379170.2:p.=
ENST00000264708.7:c.-101+1214T>G ENSP00000264708.3:p.=
ENST00000380794.5:c.-71+1214T>G ENSP00000370171.1:p.=
ENST00000395826.6:c.-21+1214T>G ENSP00000379170.2:p.=
ENST00000405623.5:c.-51+1214T>G ENSP00000384092.1:p.=
ENST00000449220.1:c.-71+1214T>G ENSP00000387993.1:p.=
NM_000939.2:c.-21+1214T>G NP_000930.1:p.=
NM_001035256.1:c.-71+1214T>G NP_001030333.1:p.=
XM_011532917.1:c.-51+1214T>G XP_011531219.1:p.=
NM_000939.3:c.-21+1214T>G NP_000930.1:p.=
NM_001035256.2:c.-71+1214T>G NP_001030333.1:p.=
NM_001319204.1:c.-101+1214T>G NP_001306133.1:p.=
NM_001319205.1:c.-51+1214T>G NP_001306134.1:p.=
NM_000939.4:c.-21+1214T>G MANE Select NP_000930.1:p.=
NM_001319204.2:c.-101+1214T>G NP_001306133.1:p.=
NM_001319205.2:c.-51+1214T>G NP_001306134.1:p.=
NM_001035256.3:c.-71+1214T>G NP_001030333.1:p.=