Canonical Allele Identifier: CA44487571
Gene: CAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27217948C>T , CM000664.2:g.27217948C>T GRCh38
NC_000002.11:g.27440816C>T , CM000664.1:g.27440816C>T GRCh37
NC_000002.10:g.27294320C>T NCBI36
NG_046394.1:g.5559C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.154C>T MANE Select ENSP00000264705.3:p.Leu52Phe
ENST00000264705.8:c.154C>T ENSP00000264705.3:p.Leu52Phe
ENST00000403525.5:c.154C>T ENSP00000384510.1:p.Leu52Phe
NM_001306079.1:c.154C>T NP_001293008.1:p.Leu52Phe
NM_004341.3:c.154C>T NP_004332.2:p.Leu52Phe
NM_004341.4:c.154C>T NP_004332.2:p.Leu52Phe
XM_005264555.2:c.154C>T XP_005264612.1:p.Leu52Phe
XM_005264556.2:c.154C>T XP_005264613.1:p.Leu52Phe
XM_005264557.2:c.154C>T XP_005264614.1:p.Leu52Phe
XM_006712101.1:c.154C>T XP_006712164.1:p.Leu52Phe
XM_006712101.3:c.154C>T XP_006712164.1:p.Leu52Phe
NM_004341.5:c.154C>T MANE Select NP_004332.2:p.Leu52Phe
NM_001306079.2:c.154C>T NP_001293008.1:p.Leu52Phe