Canonical Allele Identifier: CA232435235
Gene: C12orf57 HGNC NCBI
RNU7-1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6943843C>G , CM000674.2:g.6943843C>G GRCh38
NC_000012.11:g.7053006C>G , CM000674.1:g.7053006C>G GRCh37
NC_000012.10:g.6923267C>G NCBI36
NG_008047.1:g.24381C>G
NG_034262.1:g.5027C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000537087.5:c.-279C>G (C12orf57) ENSP00000440937.1:n.-279C>G
ENST00000538392.1:n.388+181C>G (C12orf57)
ENST00000542222.1:n.230+181C>G (C12orf57)
ENST00000544681.1:c.-279C>G (C12orf57) ENSP00000475422.1:n.-279C>G
ENST00000545581.5:c.-16+181C>G (C12orf57) ENSP00000440602.1:n.-16+181C>G
NM_001301834.1:c.-16+181C>G (C12orf57) NP_001288763.1:n.-16+181C>G
NM_001301836.1:c.13+181C>G (C12orf57) NP_001288765.1:n.13+181C>G
NM_001301837.1:c.-279C>G (C12orf57) NP_001288766.1:n.-279C>G
NM_001301838.1:c.-480C>G (C12orf57) NP_001288767.1:n.-480C>G
NM_138425.3:c.-279C>G (C12orf57) NP_612434.1:n.-279C>G
NR_023317.1:n.28C>G (RNU7-1)
NR_126035.1:n.27C>G (C12orf57)
NM_001301836.2:c.13+181C>G (C12orf57) NP_001288765.1:n.13+181C>G