Canonical Allele Identifier: CA346211712
Gene: CAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232138C>G , CM000664.2:g.27232138C>G GRCh38
NC_000002.11:g.27455006C>G , CM000664.1:g.27455006C>G GRCh37
NC_000002.10:g.27308510C>G NCBI36
NG_046394.1:g.19749C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2559C>G MANE Select ENSP00000264705.3:p.His853Gln
ENST00000264705.8:c.2559C>G ENSP00000264705.3:p.His853Gln
ENST00000403525.5:c.2370C>G ENSP00000384510.1:p.His790Gln
ENST00000464159.1:n.307C>G
NM_001306079.1:c.2370C>G NP_001293008.1:p.His790Gln
NM_004341.3:c.2559C>G NP_004332.2:p.His853Gln
NM_004341.4:c.2559C>G NP_004332.2:p.His853Gln
XM_005264555.2:c.2559C>G XP_005264612.1:p.His853Gln
XM_005264556.2:c.2559C>G XP_005264613.1:p.His853Gln
XM_005264557.2:c.2559C>G XP_005264614.1:p.His853Gln
XM_006712101.1:c.2370C>G XP_006712164.1:p.His790Gln
XM_006712101.3:c.2370C>G XP_006712164.1:p.His790Gln
XM_024453131.1:c.285C>G XP_024308899.1:p.His95Gln
NM_004341.5:c.2559C>G MANE Select NP_004332.2:p.His853Gln
NM_001306079.2:c.2370C>G NP_001293008.1:p.His790Gln