Canonical Allele Identifier: CA1573781
Community Standard Title: NM_004341.5(CAD):c.5229C>T (p.Pro1743=)
Gene: CAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27239208C>T , CM000664.2:g.27239208C>T GRCh38
NC_000002.11:g.27462076C>T , CM000664.1:g.27462076C>T GRCh37
NC_000002.10:g.27315580C>T NCBI36
NG_046394.1:g.26819C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004341.5:c.5229C>T MANE Select NP_004332.2:p.Pro1743=
ENST00000264705.9:c.5229C>T MANE Select ENSP00000264705.3:p.Pro1743=
NM_001306079.1:c.5040C>T NP_001293008.1:p.Pro1680=
NM_001306079.2:c.5040C>T NP_001293008.1:p.Pro1680=
NM_004341.3:c.5229C>T NP_004332.2:p.Pro1743=
NM_004341.4:c.5229C>T NP_004332.2:p.Pro1743=
ENST00000264705.8:c.5229C>T ENSP00000264705.3:p.Pro1743=
ENST00000403525.5:c.5040C>T ENSP00000384510.1:p.Pro1680=
ENST00000456311.1:c.91C>T
ENST00000487239.5:n.57C>T
XM_005264555.2:c.5229C>T XP_005264612.1:p.Pro1743=
XM_005264556.2:c.5229C>T XP_005264613.1:p.Pro1743=
XM_005264557.2:c.5229C>T XP_005264614.1:p.Pro1743=
XM_006712101.1:c.5040C>T XP_006712164.1:p.Pro1680=
XM_006712101.3:c.5040C>T XP_006712164.1:p.Pro1680=
XM_024453131.1:c.2955C>T XP_024308899.1:p.Pro985=