Canonical Allele Identifier: CA1555343
Gene: POMC HGNC NCBI

Linked Data

ClinVar Variation Id: 2634189
ClinVar RCV Id: RCV004531681
dbSNP Id: rs201517327
gnomAD v2: 2-25384482-T-C
gnomAD v3: 2-25161613-T-C
gnomAD v4: 2-25161613-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161613T>C , CM000664.2:g.25161613T>C GRCh38
NC_000002.11:g.25384482T>C , CM000664.1:g.25384482T>C GRCh37
NC_000002.10:g.25237986T>C NCBI36
NG_008997.1:g.12078A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.272A>G MANE Select ENSP00000379170.2:p.Asn91Ser
ENST00000264708.7:c.272A>G ENSP00000264708.3:p.Asn91Ser
ENST00000380794.5:c.272A>G ENSP00000370171.1:p.Asn91Ser
ENST00000395826.6:c.272A>G ENSP00000379170.2:p.Asn91Ser
ENST00000405623.5:c.272A>G ENSP00000384092.1:p.Asn91Ser
ENST00000449220.1:c.272A>G ENSP00000387993.1:p.Asn91Ser
NM_000939.2:c.272A>G NP_000930.1:p.Asn91Ser
NM_001035256.1:c.272A>G NP_001030333.1:p.Asn91Ser
XM_011532917.1:c.272A>G XP_011531219.1:p.Asn91Ser
NM_000939.3:c.272A>G NP_000930.1:p.Asn91Ser
NM_001035256.2:c.272A>G NP_001030333.1:p.Asn91Ser
NM_001319204.1:c.272A>G NP_001306133.1:p.Asn91Ser
NM_001319205.1:c.272A>G NP_001306134.1:p.Asn91Ser
NM_000939.4:c.272A>G MANE Select NP_000930.1:p.Asn91Ser
NM_001319204.2:c.272A>G NP_001306133.1:p.Asn91Ser
NM_001319205.2:c.272A>G NP_001306134.1:p.Asn91Ser
NM_001035256.3:c.272A>G NP_001030333.1:p.Asn91Ser