Canonical Allele Identifier: CA346109219

Gene: DRC1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.1069A>T MANE Select	ENSP00000288710.2:p.Lys357Ter
ENST00000649059.1:c.915A>T
ENST00000288710.6:c.1069A>T	ENSP00000288710.2:p.Lys357Ter
ENST00000421869.5:c.*382A>T	ENSP00000414375.1:n.*382A>T
ENST00000483675.1:n.670A>T
NM_145038.3:c.1069A>T	NP_659475.2:p.Lys357Ter
NM_145038.4:c.1069A>T	NP_659475.2:p.Lys357Ter
XM_005264637.3:c.451A>T	XP_005264694.1:p.Lys151Ter
XM_005264638.3:c.49A>T	XP_005264695.1:p.Lys17Ter
XM_017005271.1:c.49A>T	XP_016860760.1:p.Lys17Ter
XM_024453218.1:c.49A>T	XP_024308986.1:p.Lys17Ter
NM_145038.5:c.1069A>T MANE Select	NP_659475.2:p.Lys357Ter