Canonical Allele Identifier: CA232436881
Community Standard Title: NM_138425.4(C12orf57):c.53-1G>A
Gene: C12orf57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6944475G>A , CM000674.2:g.6944475G>A GRCh38
NC_000012.11:g.7053638G>A , CM000674.1:g.7053638G>A GRCh37
NC_000012.10:g.6923899G>A NCBI36
NG_034262.1:g.5659G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138425.4:c.53-1G>A MANE Select NP_612434.1:n.53-1G>A
ENST00000229281.6:c.53-1G>A MANE Select ENSP00000229281.5:n.53-1G>A
NM_001301834.1:c.53-1G>A NP_001288763.1:n.53-1G>A
NM_001301836.1:c.14-1G>A NP_001288765.1:n.14-1G>A
NM_001301836.2:c.14-1G>A NP_001288765.1:n.14-1G>A
NM_001301837.1:c.53-1G>A NP_001288766.1:n.53-1G>A
NM_001301837.2:c.53-1G>A NP_001288766.1:n.53-1G>A
NM_001301838.1:c.-54G>A NP_001288767.1:n.-54G>A
NM_001301838.2:c.-54G>A NP_001288767.1:n.-54G>A
NM_138425.3:c.53-1G>A NP_612434.1:n.53-1G>A
NR_126035.1:n.453G>A
NR_126035.2:n.248G>A
ENST00000229281.5:c.53-1G>A ENSP00000229281.5:n.53-1G>A
ENST00000537087.5:c.53-1G>A ENSP00000440937.1:n.53-1G>A
ENST00000538392.1:n.389-1G>A
ENST00000540506.2:c.-54G>A ENSP00000475635.1:n.-54G>A
ENST00000542222.1:n.231-1G>A
ENST00000544681.1:c.53-1G>A ENSP00000475422.1:n.53-1G>A
ENST00000545581.5:c.53-1G>A ENSP00000440602.1:n.53-1G>A