Canonical Allele Identifier: CA244517692
Gene: C12orf43 HGNC NCBI
gnomAD v2:
12:121442670 T / A
gnomAD v3:
12:121004867 T / A
gnomAD v4:
chr12-121004867-T-A
Joint Max Group AF 0.00203819 (EAS)
Genomes Max Group AF 0.00077068 (EAS)
Exomes Max Group AF 0.00216574 (EAS)
dbSNP:
1169313
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121004867T>A , CM000674.2:g.121004867T>A GRCh38
NC_000012.11:g.121442670T>A , CM000674.1:g.121442670T>A GRCh37
NC_000012.10:g.119927053T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000288757.7:c.452+136A>T MANE Select ENSP00000288757.5:n.452+136A>T
ENST00000445832.7:c.326+136A>T ENSP00000409788.3:n.326+136A>T
ENST00000502891.6:n.1000+136A>T
ENST00000535367.1:c.314+136A>T ENSP00000438856.1:n.314+136A>T
ENST00000537817.5:c.545+136A>T ENSP00000442224.2:n.545+136A>T
ENST00000538296.5:c.308+136A>T ENSP00000442041.2:n.308+136A>T
ENST00000539736.5:c.419+136A>T ENSP00000437803.1:n.419+136A>T
ENST00000546272.5:c.*508+136A>T ENSP00000443642.2:n.*508+136A>T
NM_001286191.1:c.545+136A>T NP_001273120.1:n.545+136A>T
NM_001286192.1:c.452+136A>T NP_001273121.1:n.452+136A>T
NM_001286195.1:c.419+136A>T NP_001273124.1:n.419+136A>T
NM_001286196.1:c.419+136A>T NP_001273125.1:n.419+136A>T
NM_001286197.1:c.353+136A>T NP_001273126.1:n.353+136A>T
NM_001286198.1:c.326+136A>T NP_001273127.1:n.326+136A>T
NM_022895.2:c.452+136A>T NP_075046.1:n.452+136A>T
NR_104409.1:n.490+136A>T
XM_011538684.1:c.314+136A>T XP_011536986.1:n.314+136A>T
XM_017019829.2:c.326+136A>T XP_016875318.1:n.326+136A>T
NM_001286191.2:c.545+136A>T NP_001273120.1:n.545+136A>T
NM_001286192.2:c.452+136A>T NP_001273121.1:n.452+136A>T
NM_001286195.2:c.419+136A>T NP_001273124.1:n.419+136A>T
NM_001286196.2:c.419+136A>T NP_001273125.1:n.419+136A>T
NM_001286197.2:c.353+136A>T NP_001273126.1:n.353+136A>T
NM_001286198.2:c.326+136A>T NP_001273127.1:n.326+136A>T
NM_022895.3:c.452+136A>T MANE Select NP_075046.1:n.452+136A>T
NR_104409.2:n.475+136A>T
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