Canonical Allele Identifier: CA1572717

Gene: CAD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27225025C>T , CM000664.2:g.27225025C>T	GRCh38
NC_000002.11:g.27447893C>T , CM000664.1:g.27447893C>T	GRCh37
NC_000002.10:g.27301397C>T	NCBI36
NG_046394.1:g.12636C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004341.5:c.1402C>T MANE Select	NP_004332.2:p.Arg468Cys
ENST00000264705.9:c.1402C>T MANE Select	ENSP00000264705.3:p.Arg468Cys
NM_001306079.1:c.1402C>T	NP_001293008.1:p.Arg468Cys
NM_001306079.2:c.1402C>T	NP_001293008.1:p.Arg468Cys
NM_004341.3:c.1402C>T	NP_004332.2:p.Arg468Cys
NM_004341.4:c.1402C>T	NP_004332.2:p.Arg468Cys
ENST00000264705.8:c.1402C>T	ENSP00000264705.3:p.Arg468Cys
ENST00000403525.5:c.1402C>T	ENSP00000384510.1:p.Arg468Cys
XM_005264555.2:c.1402C>T	XP_005264612.1:p.Arg468Cys
XM_005264556.2:c.1402C>T	XP_005264613.1:p.Arg468Cys
XM_005264557.2:c.1402C>T	XP_005264614.1:p.Arg468Cys
XM_006712101.1:c.1402C>T	XP_006712164.1:p.Arg468Cys
XM_006712101.3:c.1402C>T	XP_006712164.1:p.Arg468Cys