Canonical Allele Identifier: CA43687808
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs1034885613
gnomAD v2: 2-25390075-T-C
gnomAD v3: 2-25167206-T-C
gnomAD v4: 2-25167206-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25167206T>C , CM000664.2:g.25167206T>C GRCh38
NC_000002.11:g.25390075T>C , CM000664.1:g.25390075T>C GRCh37
NC_000002.10:g.25243579T>C NCBI36
NG_008997.1:g.6485A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.-21+1292A>G MANE Select ENSP00000379170.2:n.-21+1292A>G
ENST00000264708.7:c.-101+1292A>G ENSP00000264708.3:n.-101+1292A>G
ENST00000380794.5:c.-71+1292A>G ENSP00000370171.1:n.-71+1292A>G
ENST00000395826.6:c.-21+1292A>G ENSP00000379170.2:n.-21+1292A>G
ENST00000405623.5:c.-51+1292A>G ENSP00000384092.1:n.-51+1292A>G
ENST00000449220.1:c.-71+1292A>G ENSP00000387993.1:n.-71+1292A>G
NM_000939.2:c.-21+1292A>G NP_000930.1:n.-21+1292A>G
NM_001035256.1:c.-71+1292A>G NP_001030333.1:n.-71+1292A>G
XM_011532917.1:c.-51+1292A>G XP_011531219.1:n.-51+1292A>G
NM_000939.3:c.-21+1292A>G NP_000930.1:n.-21+1292A>G
NM_001035256.2:c.-71+1292A>G NP_001030333.1:n.-71+1292A>G
NM_001319204.1:c.-101+1292A>G NP_001306133.1:n.-101+1292A>G
NM_001319205.1:c.-51+1292A>G NP_001306134.1:n.-51+1292A>G
NM_000939.4:c.-21+1292A>G MANE Select NP_000930.1:n.-21+1292A>G
NM_001319204.2:c.-101+1292A>G NP_001306133.1:n.-101+1292A>G
NM_001319205.2:c.-51+1292A>G NP_001306134.1:n.-51+1292A>G
NM_001035256.3:c.-71+1292A>G NP_001030333.1:n.-71+1292A>G