Canonical Allele Identifier: CA346212125
Gene: CAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232211C>A , CM000664.2:g.27232211C>A GRCh38
NC_000002.11:g.27455079C>A , CM000664.1:g.27455079C>A GRCh37
NC_000002.10:g.27308583C>A NCBI36
NG_046394.1:g.19822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2632C>A MANE Select ENSP00000264705.3:p.Leu878Ile
ENST00000264705.8:c.2632C>A ENSP00000264705.3:p.Leu878Ile
ENST00000403525.5:c.2443C>A ENSP00000384510.1:p.Leu815Ile
ENST00000464159.1:n.380C>A
NM_001306079.1:c.2443C>A NP_001293008.1:p.Leu815Ile
NM_004341.3:c.2632C>A NP_004332.2:p.Leu878Ile
NM_004341.4:c.2632C>A NP_004332.2:p.Leu878Ile
XM_005264555.2:c.2632C>A XP_005264612.1:p.Leu878Ile
XM_005264556.2:c.2632C>A XP_005264613.1:p.Leu878Ile
XM_005264557.2:c.2632C>A XP_005264614.1:p.Leu878Ile
XM_006712101.1:c.2443C>A XP_006712164.1:p.Leu815Ile
XM_006712101.3:c.2443C>A XP_006712164.1:p.Leu815Ile
XM_024453131.1:c.358C>A XP_024308899.1:p.Leu120Ile
NM_004341.5:c.2632C>A MANE Select NP_004332.2:p.Leu878Ile
NM_001306079.2:c.2443C>A NP_001293008.1:p.Leu815Ile