Canonical Allele Identifier: CA44512867
Community Standard Title: NM_004341.5(CAD):c.4315-3C>T
Gene: CAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27236746C>T , CM000664.2:g.27236746C>T GRCh38
NC_000002.11:g.27459614C>T , CM000664.1:g.27459614C>T GRCh37
NC_000002.10:g.27313118C>T NCBI36
NG_046394.1:g.24357C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004341.5:c.4315-3C>T MANE Select NP_004332.2:n.4315-3C>T
ENST00000264705.9:c.4315-3C>T MANE Select ENSP00000264705.3:n.4315-3C>T
NM_001306079.1:c.4126-3C>T NP_001293008.1:n.4126-3C>T
NM_001306079.2:c.4126-3C>T NP_001293008.1:n.4126-3C>T
NM_004341.3:c.4315-3C>T NP_004332.2:n.4315-3C>T
NM_004341.4:c.4315-3C>T NP_004332.2:n.4315-3C>T
ENST00000264705.8:c.4315-3C>T ENSP00000264705.3:n.4315-3C>T
ENST00000403525.5:c.4126-3C>T ENSP00000384510.1:n.4126-3C>T
ENST00000458503.1:c.267C>T
XM_005264555.2:c.4315-3C>T XP_005264612.1:n.4315-3C>T
XM_005264556.2:c.4315-3C>T XP_005264613.1:n.4315-3C>T
XM_005264557.2:c.4315-3C>T XP_005264614.1:n.4315-3C>T
XM_006712101.1:c.4126-3C>T XP_006712164.1:n.4126-3C>T
XM_006712101.3:c.4126-3C>T XP_006712164.1:n.4126-3C>T
XM_024453131.1:c.2041-3C>T XP_024308899.1:n.2041-3C>T