Canonical Allele Identifier: CA346221761
Gene: CAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27238502C>A , CM000664.2:g.27238502C>A GRCh38
NC_000002.11:g.27461370C>A , CM000664.1:g.27461370C>A GRCh37
NC_000002.10:g.27314874C>A NCBI36
NG_046394.1:g.26113C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004341.5:c.4932C>A MANE Select NP_004332.2:p.Phe1644Leu
ENST00000264705.9:c.4932C>A MANE Select ENSP00000264705.3:p.Phe1644Leu
NM_001306079.1:c.4743C>A NP_001293008.1:p.Phe1581Leu
NM_001306079.2:c.4743C>A NP_001293008.1:p.Phe1581Leu
NM_004341.3:c.4932C>A NP_004332.2:p.Phe1644Leu
NM_004341.4:c.4932C>A NP_004332.2:p.Phe1644Leu
ENST00000264705.8:c.4932C>A ENSP00000264705.3:p.Phe1644Leu
ENST00000403525.5:c.4743C>A ENSP00000384510.1:p.Phe1581Leu
XM_005264555.2:c.4932C>A XP_005264612.1:p.Phe1644Leu
XM_005264556.2:c.4932C>A XP_005264613.1:p.Phe1644Leu
XM_005264557.2:c.4932C>A XP_005264614.1:p.Phe1644Leu
XM_006712101.1:c.4743C>A XP_006712164.1:p.Phe1581Leu
XM_006712101.3:c.4743C>A XP_006712164.1:p.Phe1581Leu
XM_024453131.1:c.2658C>A XP_024308899.1:p.Phe886Leu