Canonical Allele Identifier: CA8079896

Gene: DRC7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57705025G>C , CM000678.2:g.57705025G>C	GRCh38
NC_000016.9:g.57738937G>C , CM000678.1:g.57738937G>C	GRCh37
NC_000016.8:g.56296438G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360716.8:c.849G>C MANE Select	ENSP00000353942.3:p.Glu283Asp
ENST00000336825.12:c.654G>C	ENSP00000338938.8:p.Glu218Asp
ENST00000360716.7:c.849G>C	ENSP00000353942.3:p.Glu283Asp
ENST00000394337.8:c.849G>C	ENSP00000377869.4:p.Glu283Asp
ENST00000564132.1:c.119G>C
NM_001289162.1:c.849G>C	NP_001276091.1:p.Glu283Asp
NM_001289163.1:c.654G>C	NP_001276092.1:p.Glu218Asp
NM_032269.5:c.849G>C	NP_115645.4:p.Glu283Asp
XM_011523377.1:c.849G>C	XP_011521679.1:p.Glu283Asp
XM_011523378.1:c.654G>C	XP_011521680.1:p.Glu218Asp
NM_001289162.2:c.849G>C MANE Select	NP_001276091.1:p.Glu283Asp
NM_001289163.2:c.654G>C	NP_001276092.1:p.Glu218Asp
NM_032269.6:c.849G>C	NP_115645.4:p.Glu283Asp