Canonical Allele Identifier: CA383744264

Gene: C12orf57

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6944174G>C , CM000674.2:g.6944174G>C	GRCh38
NC_000012.11:g.7053337G>C , CM000674.1:g.7053337G>C	GRCh37
NC_000012.10:g.6923598G>C	NCBI36
NG_008047.1:g.24712G>C
NG_034262.1:g.5358G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138425.4:c.52+1G>C MANE Select	NP_612434.1:n.52+1G>C
ENST00000229281.6:c.52+1G>C MANE Select	ENSP00000229281.5:n.52+1G>C
NM_001301834.1:c.52+1G>C	NP_001288763.1:n.52+1G>C
NM_001301836.1:c.14-302G>C	NP_001288765.1:n.14-302G>C
NM_001301836.2:c.14-302G>C	NP_001288765.1:n.14-302G>C
NM_001301837.1:c.52+1G>C	NP_001288766.1:n.52+1G>C
NM_001301837.2:c.52+1G>C	NP_001288766.1:n.52+1G>C
NM_001301838.1:c.-150+1G>C	NP_001288767.1:n.-150+1G>C
NM_001301838.2:c.-150+1G>C	NP_001288767.1:n.-150+1G>C
NM_138425.3:c.52+1G>C	NP_612434.1:n.52+1G>C
NR_126035.1:n.357+1G>C
NR_126035.2:n.152+1G>C
ENST00000229281.5:c.52+1G>C	ENSP00000229281.5:n.52+1G>C
ENST00000537087.5:c.52+1G>C	ENSP00000440937.1:n.52+1G>C
ENST00000538392.1:n.389-302G>C
ENST00000540506.2:c.-150+1G>C	ENSP00000475635.1:n.-150+1G>C
ENST00000542222.1:n.231-302G>C
ENST00000544681.1:c.52+1G>C	ENSP00000475422.1:n.52+1G>C
ENST00000545581.5:c.52+1G>C	ENSP00000440602.1:n.52+1G>C