Canonical Allele Identifier: CA130937

Gene: C12orf57

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6944575T>A , CM000674.2:g.6944575T>A	GRCh38
NC_000012.11:g.7053738T>A , CM000674.1:g.7053738T>A	GRCh37
NC_000012.10:g.6923999T>A	NCBI36
NG_034262.1:g.5759T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138425.4:c.152T>A MANE Select	NP_612434.1:p.Leu51Gln
ENST00000229281.6:c.152T>A MANE Select	ENSP00000229281.5:p.Leu51Gln
NM_001301834.1:c.152T>A	NP_001288763.1:p.Leu51Gln
NM_001301836.1:c.113T>A	NP_001288765.1:p.Leu38Gln
NM_001301836.2:c.113T>A	NP_001288765.1:p.Leu38Gln
NM_001301837.1:c.142+10T>A	NP_001288766.1:n.142+10T>A
NM_001301837.2:c.142+10T>A	NP_001288766.1:n.142+10T>A
NM_001301838.1:c.47T>A	NP_001288767.1:p.Leu16Gln
NM_001301838.2:c.47T>A	NP_001288767.1:p.Leu16Gln
NM_138425.3:c.152T>A	NP_612434.1:p.Leu51Gln
NR_126035.1:n.543+10T>A
NR_126035.2:n.338+10T>A
ENST00000229281.5:c.152T>A	ENSP00000229281.5:p.Leu51Gln
ENST00000537087.5:c.142+10T>A	ENSP00000440937.1:n.142+10T>A
ENST00000538392.1:n.488T>A
ENST00000540506.2:c.47T>A	ENSP00000475635.1:p.Leu16Gln
ENST00000542222.1:n.330T>A
ENST00000544681.1:c.152T>A	ENSP00000475422.1:p.Leu51Gln
ENST00000545581.5:c.152T>A	ENSP00000440602.1:p.Leu51Gln