Canonical Allele Identifier: CA1555285
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs770388153
gnomAD v2: 2-25384238-G-T
gnomAD v3: 2-25161369-G-T
gnomAD v4: 2-25161369-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161369G>T , CM000664.2:g.25161369G>T GRCh38
NC_000002.11:g.25384238G>T , CM000664.1:g.25384238G>T GRCh37
NC_000002.10:g.25237742G>T NCBI36
NG_008997.1:g.12322C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.516C>A MANE Select ENSP00000379170.2:p.Phe172Leu
ENST00000264708.7:c.516C>A ENSP00000264708.3:p.Phe172Leu
ENST00000380794.5:c.516C>A ENSP00000370171.1:p.Phe172Leu
ENST00000395826.6:c.516C>A ENSP00000379170.2:p.Phe172Leu
ENST00000405623.5:c.516C>A ENSP00000384092.1:p.Phe172Leu
ENST00000449220.1:c.516C>A ENSP00000387993.1:p.Phe172Leu
NM_000939.2:c.516C>A NP_000930.1:p.Phe172Leu
NM_001035256.1:c.516C>A NP_001030333.1:p.Phe172Leu
XM_011532917.1:c.516C>A XP_011531219.1:p.Phe172Leu
NM_000939.3:c.516C>A NP_000930.1:p.Phe172Leu
NM_001035256.2:c.516C>A NP_001030333.1:p.Phe172Leu
NM_001319204.1:c.516C>A NP_001306133.1:p.Phe172Leu
NM_001319205.1:c.516C>A NP_001306134.1:p.Phe172Leu
NM_000939.4:c.516C>A MANE Select NP_000930.1:p.Phe172Leu
NM_001319204.2:c.516C>A NP_001306133.1:p.Phe172Leu
NM_001319205.2:c.516C>A NP_001306134.1:p.Phe172Leu
NM_001035256.3:c.516C>A NP_001030333.1:p.Phe172Leu