Canonical Allele Identifier: CA44403841

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26455325C>A , CM000664.2:g.26455325C>A	GRCh38
NC_000002.11:g.26678193C>A , CM000664.1:g.26678193C>A	GRCh37
NC_000002.10:g.26531697C>A	NCBI36
NG_009937.1:g.108374G>T
NG_042824.1:g.58414C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.2166+92C>A MANE Select	NP_659475.2:n.2166+92C>A
ENST00000288710.7:c.2166+92C>A MANE Select	ENSP00000288710.2:n.2166+92C>A
NM_145038.3:c.2166+92C>A	NP_659475.2:n.2166+92C>A
NM_145038.4:c.2166+92C>A	NP_659475.2:n.2166+92C>A
ENST00000288710.6:c.2166+92C>A	ENSP00000288710.2:n.2166+92C>A
ENST00000649059.1:c.2012+92C>A
XM_005264637.3:c.1548+92C>A	XP_005264694.1:n.1548+92C>A
XM_005264638.3:c.1146+92C>A	XP_005264695.1:n.1146+92C>A
XM_017005271.1:c.1146+92C>A	XP_016860760.1:n.1146+92C>A
XM_024453218.1:c.1146+92C>A	XP_024308986.1:n.1146+92C>A