Canonical Allele Identifier: CA8079916

Gene: DRC7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57707466G>A , CM000678.2:g.57707466G>A	GRCh38
NC_000016.9:g.57741378G>A , CM000678.1:g.57741378G>A	GRCh37
NC_000016.8:g.56298879G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360716.8:c.865G>A MANE Select	ENSP00000353942.3:p.Glu289Lys
ENST00000336825.12:c.670G>A	ENSP00000338938.8:p.Glu224Lys
ENST00000360716.7:c.865G>A	ENSP00000353942.3:p.Glu289Lys
ENST00000394337.8:c.865G>A	ENSP00000377869.4:p.Glu289Lys
ENST00000564132.1:c.135G>A
NM_001289162.1:c.865G>A	NP_001276091.1:p.Glu289Lys
NM_001289163.1:c.670G>A	NP_001276092.1:p.Glu224Lys
NM_032269.5:c.865G>A	NP_115645.4:p.Glu289Lys
XM_011523377.1:c.865G>A	XP_011521679.1:p.Glu289Lys
XM_011523378.1:c.670G>A	XP_011521680.1:p.Glu224Lys
NM_001289162.2:c.865G>A MANE Select	NP_001276091.1:p.Glu289Lys
NM_001289163.2:c.670G>A	NP_001276092.1:p.Glu224Lys
NM_032269.6:c.865G>A	NP_115645.4:p.Glu289Lys