Canonical Allele Identifier: CA44400013

Gene: DRC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26450652C>T , CM000664.2:g.26450652C>T	GRCh38
NC_000002.11:g.26673520C>T , CM000664.1:g.26673520C>T	GRCh37
NC_000002.10:g.26527024C>T	NCBI36
NG_042824.1:g.53741C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145038.5:c.1660C>T MANE Select	NP_659475.2:p.Arg554Ter
ENST00000288710.7:c.1660C>T MANE Select	ENSP00000288710.2:p.Arg554Ter
NM_145038.3:c.1660C>T	NP_659475.2:p.Arg554Ter
NM_145038.4:c.1660C>T	NP_659475.2:p.Arg554Ter
ENST00000288710.6:c.1660C>T	ENSP00000288710.2:p.Arg554Ter
ENST00000439066.2:n.390C>T
ENST00000649059.1:c.1506C>T
XM_005264637.3:c.1042C>T	XP_005264694.1:p.Arg348Ter
XM_005264638.3:c.640C>T	XP_005264695.1:p.Arg214Ter
XM_017005271.1:c.640C>T	XP_016860760.1:p.Arg214Ter
XM_024453218.1:c.640C>T	XP_024308986.1:p.Arg214Ter