Canonical Allele Identifier: CA6421357
Community Standard Title: NM_138425.4(C12orf57):c.332C>A (p.Thr111Asn)
Gene: C12orf57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6945873C>A , CM000674.2:g.6945873C>A GRCh38
NC_000012.11:g.7055036C>A , CM000674.1:g.7055036C>A GRCh37
NC_000012.10:g.6925297C>A NCBI36
NG_034262.1:g.7057C>A

Transcript Alleles

HGVS Amino-acid Change
NM_138425.4:c.332C>A MANE Select NP_612434.1:p.Thr111Asn
ENST00000229281.6:c.332C>A MANE Select ENSP00000229281.5:p.Thr111Asn
NM_001301834.1:c.332C>A NP_001288763.1:p.Thr111Asn
NM_001301836.1:c.293C>A NP_001288765.1:p.Thr98Asn
NM_001301836.2:c.293C>A NP_001288765.1:p.Thr98Asn
NM_001301837.1:c.245C>A NP_001288766.1:p.Thr82Asn
NM_001301837.2:c.245C>A NP_001288766.1:p.Thr82Asn
NM_001301838.1:c.227C>A NP_001288767.1:p.Thr76Asn
NM_001301838.2:c.227C>A NP_001288767.1:p.Thr76Asn
NM_138425.3:c.332C>A NP_612434.1:p.Thr111Asn
NR_126035.1:n.646C>A
NR_126035.2:n.441C>A
ENST00000229281.5:c.332C>A ENSP00000229281.5:p.Thr111Asn
ENST00000537087.5:c.245C>A ENSP00000440937.1:p.Thr82Asn
ENST00000540506.2:c.227C>A ENSP00000475635.1:p.Thr76Asn
ENST00000542222.1:n.510C>A
ENST00000545581.5:c.332C>A ENSP00000440602.1:p.Thr111Asn