Canonical Allele Identifier: CA205092

Gene: C12orf57

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6945781G>A , CM000674.2:g.6945781G>A	GRCh38
NC_000012.11:g.7054944G>A , CM000674.1:g.7054944G>A	GRCh37
NC_000012.10:g.6925205G>A	NCBI36
NG_034262.1:g.6965G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138425.4:c.240G>A MANE Select	NP_612434.1:p.Lys80=
ENST00000229281.6:c.240G>A MANE Select	ENSP00000229281.5:p.Lys80=
NM_001301834.1:c.240G>A	NP_001288763.1:p.Lys80=
NM_001301836.1:c.201G>A	NP_001288765.1:p.Lys67=
NM_001301836.2:c.201G>A	NP_001288765.1:p.Lys67=
NM_001301837.1:c.153G>A	NP_001288766.1:p.Lys51=
NM_001301837.2:c.153G>A	NP_001288766.1:p.Lys51=
NM_001301838.1:c.135G>A	NP_001288767.1:p.Lys45=
NM_001301838.2:c.135G>A	NP_001288767.1:p.Lys45=
NM_138425.3:c.240G>A	NP_612434.1:p.Lys80=
NR_126035.1:n.554G>A
NR_126035.2:n.349G>A
ENST00000229281.5:c.240G>A	ENSP00000229281.5:p.Lys80=
ENST00000537087.5:c.153G>A	ENSP00000440937.1:p.Lys51=
ENST00000540506.2:c.135G>A	ENSP00000475635.1:p.Lys45=
ENST00000542222.1:n.418G>A
ENST00000545581.5:c.240G>A	ENSP00000440602.1:p.Lys80=