Canonical Allele Identifier: CA2548268442
Gene: CAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232382C>T , CM000664.2:g.27232382C>T GRCh38
NC_000002.11:g.27455250C>T , CM000664.1:g.27455250C>T GRCh37
NC_000002.10:g.27308754C>T NCBI36
NG_046394.1:g.19993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2646-66C>T MANE Select ENSP00000264705.3:n.2646-66C>T
ENST00000264705.8:c.2646-66C>T ENSP00000264705.3:n.2646-66C>T
ENST00000403525.5:c.2457-66C>T ENSP00000384510.1:n.2457-66C>T
ENST00000464159.1:n.394-66C>T
NM_001306079.1:c.2457-66C>T NP_001293008.1:n.2457-66C>T
NM_004341.3:c.2646-66C>T NP_004332.2:n.2646-66C>T
NM_004341.4:c.2646-66C>T NP_004332.2:n.2646-66C>T
XM_005264555.2:c.2646-66C>T XP_005264612.1:n.2646-66C>T
XM_005264556.2:c.2646-66C>T XP_005264613.1:n.2646-66C>T
XM_005264557.2:c.2646-66C>T XP_005264614.1:n.2646-66C>T
XM_006712101.1:c.2457-66C>T XP_006712164.1:n.2457-66C>T
XM_006712101.3:c.2457-66C>T XP_006712164.1:n.2457-66C>T
XM_024453131.1:c.372-66C>T XP_024308899.1:n.372-66C>T
NM_004341.5:c.2646-66C>T MANE Select NP_004332.2:n.2646-66C>T
NM_001306079.2:c.2457-66C>T NP_001293008.1:n.2457-66C>T