Canonical Allele Identifier: CA425598780
Gene: CAD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27455075T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232207T>C , CM000664.2:g.27232207T>C GRCh38
NC_000002.11:g.27455075T>C , CM000664.1:g.27455075T>C GRCh37
NC_000002.10:g.27308579T>C NCBI36
NG_046394.1:g.19818T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2628T>C MANE Select ENSP00000264705.3:p.Ile876=
ENST00000264705.8:c.2628T>C ENSP00000264705.3:p.Ile876=
ENST00000403525.5:c.2439T>C ENSP00000384510.1:p.Ile813=
ENST00000464159.1:n.376T>C
NM_001306079.1:c.2439T>C NP_001293008.1:p.Ile813=
NM_004341.3:c.2628T>C NP_004332.2:p.Ile876=
NM_004341.4:c.2628T>C NP_004332.2:p.Ile876=
XM_005264555.2:c.2628T>C XP_005264612.1:p.Ile876=
XM_005264556.2:c.2628T>C XP_005264613.1:p.Ile876=
XM_005264557.2:c.2628T>C XP_005264614.1:p.Ile876=
XM_006712101.1:c.2439T>C XP_006712164.1:p.Ile813=
XM_006712101.3:c.2439T>C XP_006712164.1:p.Ile813=
XM_024453131.1:c.354T>C XP_024308899.1:p.Ile118=
NM_004341.5:c.2628T>C MANE Select NP_004332.2:p.Ile876=
NM_001306079.2:c.2439T>C NP_001293008.1:p.Ile813=