Canonical Allele Identifier: CA346107187

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26440498C>T , CM000664.2:g.26440498C>T	GRCh38
NC_000002.11:g.26663366C>T , CM000664.1:g.26663366C>T	GRCh37
NC_000002.10:g.26516870C>T	NCBI36
NG_042824.1:g.43587C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1009C>T MANE Select	NP_659475.2:p.Gln337Ter
ENST00000288710.7:c.1009C>T MANE Select	ENSP00000288710.2:p.Gln337Ter
NM_145038.3:c.1009C>T	NP_659475.2:p.Gln337Ter
NM_145038.4:c.1009C>T	NP_659475.2:p.Gln337Ter
ENST00000288710.6:c.1009C>T	ENSP00000288710.2:p.Gln337Ter
ENST00000421869.5:c.*342-3724C>T	ENSP00000414375.1:n.*342-3724C>T
ENST00000442810.5:n.496C>T
ENST00000483675.1:n.610C>T
ENST00000649059.1:c.875-3724C>T
XM_005264637.3:c.391C>T	XP_005264694.1:p.Gln131Ter
XM_005264638.3:c.9-3724C>T	XP_005264695.1:n.9-3724C>T
XM_017005271.1:c.9-3724C>T	XP_016860760.1:n.9-3724C>T
XM_024453218.1:c.9-3724C>T	XP_024308986.1:n.9-3724C>T