Canonical Allele Identifier: CA232435382

Gene: C12orf57 RNU7-1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6943867C>T , CM000674.2:g.6943867C>T	GRCh38
NC_000012.11:g.7053030C>T , CM000674.1:g.7053030C>T	GRCh37
NC_000012.10:g.6923291C>T	NCBI36
NG_008047.1:g.24405C>T
NG_034262.1:g.5051C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001301834.1:c.-16+205C>T (C12orf57)	NP_001288763.1:n.-16+205C>T
NM_001301836.1:c.13+205C>T (C12orf57)	NP_001288765.1:n.13+205C>T
NM_001301836.2:c.13+205C>T (C12orf57)	NP_001288765.1:n.13+205C>T
NM_001301837.1:c.-255C>T (C12orf57)	NP_001288766.1:n.-255C>T
NM_001301838.1:c.-456C>T (C12orf57)	NP_001288767.1:n.-456C>T
NM_138425.3:c.-255C>T (C12orf57)	NP_612434.1:n.-255C>T
NR_023317.1:n.52C>T (RNU7-1)
NR_126035.1:n.51C>T (C12orf57)
ENST00000537087.5:c.-255C>T (C12orf57)	ENSP00000440937.1:n.-255C>T
ENST00000538392.1:n.388+205C>T (C12orf57)
ENST00000542222.1:n.230+205C>T (C12orf57)
ENST00000544681.1:c.-255C>T (C12orf57)	ENSP00000475422.1:n.-255C>T
ENST00000545581.5:c.-16+205C>T (C12orf57)	ENSP00000440602.1:n.-16+205C>T