Canonical Allele Identifier: CA1562130

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26444262A>G , CM000664.2:g.26444262A>G	GRCh38
NC_000002.11:g.26667130A>G , CM000664.1:g.26667130A>G	GRCh37
NC_000002.10:g.26520634A>G	NCBI36
NG_042824.1:g.47351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.1069A>G MANE Select	ENSP00000288710.2:p.Lys357Glu
ENST00000649059.1:c.915A>G
ENST00000288710.6:c.1069A>G	ENSP00000288710.2:p.Lys357Glu
ENST00000421869.5:c.*382A>G	ENSP00000414375.1:n.*382A>G
ENST00000483675.1:n.670A>G
NM_145038.3:c.1069A>G	NP_659475.2:p.Lys357Glu
NM_145038.4:c.1069A>G	NP_659475.2:p.Lys357Glu
XM_005264637.3:c.451A>G	XP_005264694.1:p.Lys151Glu
XM_005264638.3:c.49A>G	XP_005264695.1:p.Lys17Glu
XM_017005271.1:c.49A>G	XP_016860760.1:p.Lys17Glu
XM_024453218.1:c.49A>G	XP_024308986.1:p.Lys17Glu
NM_145038.5:c.1069A>G MANE Select	NP_659475.2:p.Lys357Glu