Canonical Allele Identifier: CA383744288

Gene: C12orf57

Linked Data

• ClinVar Variation Id: 242885
• ClinVar RCV Id: RCV000491421 ; RCV000985183
• dbSNP Id: rs1114167293
• gnomAD v4: 12-6944474-A-G
• MyVariant Identifiers: chr12:g.7053637A>G (hg19) ; chr12:g.6944474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6944474A>G , CM000674.2:g.6944474A>G	GRCh38
NC_000012.11:g.7053637A>G , CM000674.1:g.7053637A>G	GRCh37
NC_000012.10:g.6923898A>G	NCBI36
NG_034262.1:g.5658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229281.6:c.53-2A>G MANE Select	ENSP00000229281.5:n.53-2A>G
ENST00000229281.5:c.53-2A>G	ENSP00000229281.5:n.53-2A>G
ENST00000537087.5:c.53-2A>G	ENSP00000440937.1:n.53-2A>G
ENST00000538392.1:n.389-2A>G
ENST00000540506.2:c.-55A>G	ENSP00000475635.1:n.-55A>G
ENST00000542222.1:n.231-2A>G
ENST00000544681.1:c.53-2A>G	ENSP00000475422.1:n.53-2A>G
ENST00000545581.5:c.53-2A>G	ENSP00000440602.1:n.53-2A>G
NM_001301834.1:c.53-2A>G	NP_001288763.1:n.53-2A>G
NM_001301836.1:c.14-2A>G	NP_001288765.1:n.14-2A>G
NM_001301837.1:c.53-2A>G	NP_001288766.1:n.53-2A>G
NM_001301838.1:c.-55A>G	NP_001288767.1:n.-55A>G
NM_138425.3:c.53-2A>G	NP_612434.1:n.53-2A>G
NR_126035.1:n.452A>G
NM_138425.4:c.53-2A>G MANE Select	NP_612434.1:n.53-2A>G
NM_001301836.2:c.14-2A>G	NP_001288765.1:n.14-2A>G
NM_001301837.2:c.53-2A>G	NP_001288766.1:n.53-2A>G
NM_001301838.2:c.-55A>G	NP_001288767.1:n.-55A>G
NR_126035.2:n.247A>G