Canonical Allele Identifier: CA207427

Gene: C12orf57

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6945798A>G , CM000674.2:g.6945798A>G	GRCh38
NC_000012.11:g.7054961A>G , CM000674.1:g.7054961A>G	GRCh37
NC_000012.10:g.6925222A>G	NCBI36
NG_034262.1:g.6982A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138425.4:c.257A>G MANE Select	NP_612434.1:p.Lys86Arg
ENST00000229281.6:c.257A>G MANE Select	ENSP00000229281.5:p.Lys86Arg
NM_001301834.1:c.257A>G	NP_001288763.1:p.Lys86Arg
NM_001301836.1:c.218A>G	NP_001288765.1:p.Lys73Arg
NM_001301836.2:c.218A>G	NP_001288765.1:p.Lys73Arg
NM_001301837.1:c.170A>G	NP_001288766.1:p.Lys57Arg
NM_001301837.2:c.170A>G	NP_001288766.1:p.Lys57Arg
NM_001301838.1:c.152A>G	NP_001288767.1:p.Lys51Arg
NM_001301838.2:c.152A>G	NP_001288767.1:p.Lys51Arg
NM_138425.3:c.257A>G	NP_612434.1:p.Lys86Arg
NR_126035.1:n.571A>G
NR_126035.2:n.366A>G
ENST00000229281.5:c.257A>G	ENSP00000229281.5:p.Lys86Arg
ENST00000537087.5:c.170A>G	ENSP00000440937.1:p.Lys57Arg
ENST00000540506.2:c.152A>G	ENSP00000475635.1:p.Lys51Arg
ENST00000542222.1:n.435A>G
ENST00000545581.5:c.257A>G	ENSP00000440602.1:p.Lys86Arg