Canonical Allele Identifier: CA384555556

Gene: C12orf54

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48488944T>G , CM000674.2:g.48488944T>G	GRCh38
NC_000012.11:g.48882727T>G , CM000674.1:g.48882727T>G	GRCh37
NC_000012.10:g.47168994T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548364.7:c.156T>G MANE Select	ENSP00000447109.1:p.Asp52Glu
ENST00000314014.6:c.156T>G	ENSP00000316898.2:p.Asp52Glu
ENST00000380491.7:c.156T>G	ENSP00000369859.3:p.Asp52Glu
ENST00000548364.5:c.156T>G	ENSP00000447109.1:p.Asp52Glu
NM_152319.3:c.156T>G	NP_689532.1:p.Asp52Glu
XM_005268636.2:c.72T>G	XP_005268693.1:p.Asp24Glu
XM_011537896.1:c.72T>G	XP_011536198.1:p.Asp24Glu
XM_005268636.3:c.72T>G	XP_005268693.1:p.Asp24Glu
XM_011537896.2:c.72T>G	XP_011536198.1:p.Asp24Glu
XM_017018796.1:c.174T>G	XP_016874285.1:p.Asp58Glu
NM_152319.4:c.156T>G MANE Select	NP_689532.1:p.Asp52Glu