Canonical Allele Identifier: CA1562129

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26444260C>T , CM000664.2:g.26444260C>T	GRCh38
NC_000002.11:g.26667128C>T , CM000664.1:g.26667128C>T	GRCh37
NC_000002.10:g.26520632C>T	NCBI36
NG_042824.1:g.47349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1067C>T MANE Select	NP_659475.2:p.Ala356Val
ENST00000288710.7:c.1067C>T MANE Select	ENSP00000288710.2:p.Ala356Val
NM_145038.3:c.1067C>T	NP_659475.2:p.Ala356Val
NM_145038.4:c.1067C>T	NP_659475.2:p.Ala356Val
ENST00000288710.6:c.1067C>T	ENSP00000288710.2:p.Ala356Val
ENST00000421869.5:c.*380C>T	ENSP00000414375.1:n.*380C>T
ENST00000483675.1:n.668C>T
ENST00000649059.1:c.913C>T
XM_005264637.3:c.449C>T	XP_005264694.1:p.Ala150Val
XM_005264638.3:c.47C>T	XP_005264695.1:p.Ala16Val
XM_017005271.1:c.47C>T	XP_016860760.1:p.Ala16Val
XM_024453218.1:c.47C>T	XP_024308986.1:p.Ala16Val