Canonical Allele Identifier: CA346109944

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26444747T>A , CM000664.2:g.26444747T>A	GRCh38
NC_000002.11:g.26667615T>A , CM000664.1:g.26667615T>A	GRCh37
NC_000002.10:g.26521119T>A	NCBI36
NG_042824.1:g.47836T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1195T>A MANE Select	NP_659475.2:p.Trp399Arg
ENST00000288710.7:c.1195T>A MANE Select	ENSP00000288710.2:p.Trp399Arg
NM_145038.3:c.1195T>A	NP_659475.2:p.Trp399Arg
NM_145038.4:c.1195T>A	NP_659475.2:p.Trp399Arg
ENST00000288710.6:c.1195T>A	ENSP00000288710.2:p.Trp399Arg
ENST00000421869.5:c.*508T>A	ENSP00000414375.1:n.*508T>A
ENST00000483675.1:n.796T>A
ENST00000649059.1:c.1041T>A
XM_005264637.3:c.577T>A	XP_005264694.1:p.Trp193Arg
XM_005264638.3:c.175T>A	XP_005264695.1:p.Trp59Arg
XM_017005271.1:c.175T>A	XP_016860760.1:p.Trp59Arg
XM_024453218.1:c.175T>A	XP_024308986.1:p.Trp59Arg