Canonical Allele Identifier: CA1562134

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26444286G>A , CM000664.2:g.26444286G>A	GRCh38
NC_000002.11:g.26667154G>A , CM000664.1:g.26667154G>A	GRCh37
NC_000002.10:g.26520658G>A	NCBI36
NG_042824.1:g.47375G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1093G>A MANE Select	NP_659475.2:p.Glu365Lys
ENST00000288710.7:c.1093G>A MANE Select	ENSP00000288710.2:p.Glu365Lys
NM_145038.3:c.1093G>A	NP_659475.2:p.Glu365Lys
NM_145038.4:c.1093G>A	NP_659475.2:p.Glu365Lys
ENST00000288710.6:c.1093G>A	ENSP00000288710.2:p.Glu365Lys
ENST00000421869.5:c.*406G>A	ENSP00000414375.1:n.*406G>A
ENST00000483675.1:n.694G>A
ENST00000649059.1:c.939G>A
XM_005264637.3:c.475G>A	XP_005264694.1:p.Glu159Lys
XM_005264638.3:c.73G>A	XP_005264695.1:p.Glu25Lys
XM_017005271.1:c.73G>A	XP_016860760.1:p.Glu25Lys
XM_024453218.1:c.73G>A	XP_024308986.1:p.Glu25Lys