Canonical Allele Identifier: CA396071334

Gene: DRC7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57700244G>A , CM000678.2:g.57700244G>A	GRCh38
NC_000016.9:g.57734156G>A , CM000678.1:g.57734156G>A	GRCh37
NC_000016.8:g.56291657G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001289162.2:c.478G>A MANE Select	NP_001276091.1:p.Val160Met
ENST00000360716.8:c.478G>A MANE Select	ENSP00000353942.3:p.Val160Met
NM_001289162.1:c.478G>A	NP_001276091.1:p.Val160Met
NM_001289163.1:c.478G>A	NP_001276092.1:p.Val160Met
NM_001289163.2:c.478G>A	NP_001276092.1:p.Val160Met
NM_032269.5:c.478G>A	NP_115645.4:p.Val160Met
NM_032269.6:c.478G>A	NP_115645.4:p.Val160Met
ENST00000336825.12:c.478G>A	ENSP00000338938.8:p.Val160Met
ENST00000360716.7:c.478G>A	ENSP00000353942.3:p.Val160Met
ENST00000394337.8:c.478G>A	ENSP00000377869.4:p.Val160Met
ENST00000563126.5:c.487G>A	ENSP00000457676.1:p.Val163Met
ENST00000564297.5:c.*90G>A	ENSP00000454722.1:n.*90G>A
ENST00000569167.1:c.67G>A	ENSP00000455994.1:p.Val23Met
XM_011523377.1:c.478G>A	XP_011521679.1:p.Val160Met
XM_011523378.1:c.478G>A	XP_011521680.1:p.Val160Met