Canonical Allele Identifier: CA232435436

Gene: C12orf57 RNU7-1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6943875C>T , CM000674.2:g.6943875C>T	GRCh38
NC_000012.11:g.7053038C>T , CM000674.1:g.7053038C>T	GRCh37
NC_000012.10:g.6923299C>T	NCBI36
NG_008047.1:g.24413C>T
NG_034262.1:g.5059C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001301834.1:c.-16+213C>T (C12orf57)	NP_001288763.1:n.-16+213C>T
NM_001301836.1:c.13+213C>T (C12orf57)	NP_001288765.1:n.13+213C>T
NM_001301836.2:c.13+213C>T (C12orf57)	NP_001288765.1:n.13+213C>T
NM_001301837.1:c.-247C>T (C12orf57)	NP_001288766.1:n.-247C>T
NM_001301838.1:c.-448C>T (C12orf57)	NP_001288767.1:n.-448C>T
NM_138425.3:c.-247C>T (C12orf57)	NP_612434.1:n.-247C>T
NR_023317.1:n.60C>T (RNU7-1)
NR_126035.1:n.59C>T (C12orf57)
ENST00000537087.5:c.-247C>T (C12orf57)	ENSP00000440937.1:n.-247C>T
ENST00000538392.1:n.388+213C>T (C12orf57)
ENST00000542222.1:n.230+213C>T (C12orf57)
ENST00000544681.1:c.-247C>T (C12orf57)	ENSP00000475422.1:n.-247C>T
ENST00000545581.5:c.-16+213C>T (C12orf57)	ENSP00000440602.1:n.-16+213C>T