Canonical Allele Identifier: CA1573295
Community Standard Title: NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln)
Gene: CAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27234120C>A , CM000664.2:g.27234120C>A GRCh38
NC_000002.11:g.27456988C>A , CM000664.1:g.27456988C>A GRCh37
NC_000002.10:g.27310492C>A NCBI36
NG_046394.1:g.21731C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004341.5:c.3512C>A MANE Select NP_004332.2:p.Pro1171Gln
ENST00000264705.9:c.3512C>A MANE Select ENSP00000264705.3:p.Pro1171Gln
NM_001306079.1:c.3323C>A NP_001293008.1:p.Pro1108Gln
NM_001306079.2:c.3323C>A NP_001293008.1:p.Pro1108Gln
NM_004341.3:c.3512C>A NP_004332.2:p.Pro1171Gln
NM_004341.4:c.3512C>A NP_004332.2:p.Pro1171Gln
ENST00000264705.8:c.3512C>A ENSP00000264705.3:p.Pro1171Gln
ENST00000403525.5:c.3323C>A ENSP00000384510.1:p.Pro1108Gln
ENST00000475695.1:n.672C>A
XM_005264555.2:c.3512C>A XP_005264612.1:p.Pro1171Gln
XM_005264556.2:c.3512C>A XP_005264613.1:p.Pro1171Gln
XM_005264557.2:c.3512C>A XP_005264614.1:p.Pro1171Gln
XM_006712101.1:c.3323C>A XP_006712164.1:p.Pro1108Gln
XM_006712101.3:c.3323C>A XP_006712164.1:p.Pro1108Gln
XM_024453131.1:c.1238C>A XP_024308899.1:p.Pro413Gln