Canonical Allele Identifier: CA8080087

Gene: DRC7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57722750T>G , CM000678.2:g.57722750T>G	GRCh38
NC_000016.9:g.57756662T>G , CM000678.1:g.57756662T>G	GRCh37
NC_000016.8:g.56314163T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001289162.2:c.1317T>G MANE Select	NP_001276091.1:p.Ile439Met
ENST00000360716.8:c.1317T>G MANE Select	ENSP00000353942.3:p.Ile439Met
NM_001289162.1:c.1317T>G	NP_001276091.1:p.Ile439Met
NM_001289163.1:c.1122T>G	NP_001276092.1:p.Ile374Met
NM_001289163.2:c.1122T>G	NP_001276092.1:p.Ile374Met
NM_032269.5:c.1317T>G	NP_115645.4:p.Ile439Met
NM_032269.6:c.1317T>G	NP_115645.4:p.Ile439Met
ENST00000336825.12:c.1122T>G	ENSP00000338938.8:p.Ile374Met
ENST00000360716.7:c.1317T>G	ENSP00000353942.3:p.Ile439Met
ENST00000394337.8:c.1317T>G	ENSP00000377869.4:p.Ile439Met
ENST00000562250.1:c.86T>G
XM_011523377.1:c.1280-252T>G	XP_011521679.1:n.1280-252T>G
XM_011523378.1:c.1122T>G	XP_011521680.1:p.Ile374Met