Canonical Allele Identifier: CA1561999

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26430839G>A , CM000664.2:g.26430839G>A	GRCh38
NC_000002.11:g.26653707G>A , CM000664.1:g.26653707G>A	GRCh37
NC_000002.10:g.26507211G>A	NCBI36
NG_042824.1:g.33928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.732G>A MANE Select	NP_659475.2:p.Trp244Ter
ENST00000288710.7:c.732G>A MANE Select	ENSP00000288710.2:p.Trp244Ter
NM_145038.3:c.732G>A	NP_659475.2:p.Trp244Ter
NM_145038.4:c.732G>A	NP_659475.2:p.Trp244Ter
ENST00000288710.6:c.732G>A	ENSP00000288710.2:p.Trp244Ter
ENST00000421869.5:c.*185G>A	ENSP00000414375.1:n.*185G>A
ENST00000442810.5:n.219G>A
ENST00000483675.1:n.333G>A
ENST00000487307.5:n.439G>A
ENST00000649059.1:c.718G>A
XM_005264637.3:c.114G>A	XP_005264694.1:p.Trp38Ter
XM_005264638.3:c.-149G>A	XP_005264695.1:n.-149G>A
XM_017005271.1:c.-149G>A	XP_016860760.1:n.-149G>A
XM_024453218.1:c.-149G>A	XP_024308986.1:n.-149G>A