Canonical Allele Identifier: CA1573388

Gene: CAD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27235326G>A , CM000664.2:g.27235326G>A	GRCh38
NC_000002.11:g.27458194G>A , CM000664.1:g.27458194G>A	GRCh37
NC_000002.10:g.27311698G>A	NCBI36
NG_046394.1:g.22937G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004341.5:c.3868G>A MANE Select	NP_004332.2:p.Gly1290Ser
ENST00000264705.9:c.3868G>A MANE Select	ENSP00000264705.3:p.Gly1290Ser
NM_001306079.1:c.3679G>A	NP_001293008.1:p.Gly1227Ser
NM_001306079.2:c.3679G>A	NP_001293008.1:p.Gly1227Ser
NM_004341.3:c.3868G>A	NP_004332.2:p.Gly1290Ser
NM_004341.4:c.3868G>A	NP_004332.2:p.Gly1290Ser
ENST00000264705.8:c.3868G>A	ENSP00000264705.3:p.Gly1290Ser
ENST00000403525.5:c.3679G>A	ENSP00000384510.1:p.Gly1227Ser
ENST00000479002.1:n.172G>A
XM_005264555.2:c.3868G>A	XP_005264612.1:p.Gly1290Ser
XM_005264556.2:c.3868G>A	XP_005264613.1:p.Gly1290Ser
XM_005264557.2:c.3868G>A	XP_005264614.1:p.Gly1290Ser
XM_006712101.1:c.3679G>A	XP_006712164.1:p.Gly1227Ser
XM_006712101.3:c.3679G>A	XP_006712164.1:p.Gly1227Ser
XM_024453131.1:c.1594G>A	XP_024308899.1:p.Gly532Ser