Canonical Allele Identifier: CA2581072735
Gene: C12orf60 HGNC NCBI
MGP HGNC NCBI
gnomAD v3:
12:14885985 A / C
gnomAD v4:
chr12-14885985-A-C
Joint Max Group AF 0.00009057 (EAS)
Exomes Max Group AF 0.00008474 (EAS)
dbSNP:
1800802
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14885985A>C , CM000674.2:g.14885985A>C GRCh38
NC_000012.11:g.15038919A>C , CM000674.1:g.15038919A>C GRCh37
NC_000012.10:g.14930186A>C NCBI36
NG_023331.1:g.4935T>G
NG_023331.2:g.4935T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648334.1:n.126-18022A>C (C12orf60)
ENST00000527783.1:n.76-13184A>C (C12orf60)
ENST00000533472.1:n.87-18022A>C (C12orf60)
ENST00000543822.1:n.91+179A>C (C12orf60)
NM_000900.4:c.-194T>G (MGP) NP_000891.2:n.-194T>G
NM_001190839.2:c.-194T>G (MGP) NP_001177768.1:n.-194T>G
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