Canonical Allele Identifier: CA2171764287
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407981A= , CM000677.2:g.40407981A= GRCh38
NC_000015.9:g.40700180A= , CM000677.1:g.40700180A= GRCh37
NC_000015.8:g.38487472A= NCBI36
NG_011986.1:g.7495A=
NG_011986.2:g.7497A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.187A= ENSP00000417990.3:p.Thr63=
ENST00000487418.8:c.277A= MANE Select ENSP00000418397.3:p.Thr93=
ENST00000610693.5:c.364A= ENSP00000479359.2:p.Thr122=
ENST00000650656.1:c.196A= ENSP00000498731.1:p.Thr66=
ENST00000651168.1:c.286A= ENSP00000499074.1:p.Thr96=
ENST00000473112.6:c.36A=
ENST00000479013.6:c.196A= ENSP00000417990.2:p.Thr66=
ENST00000487418.6:c.286A= ENSP00000418397.2:p.Thr96=
ENST00000558610.5:c.229A= ENSP00000453821.1:p.Thr77=
ENST00000610693.4:c.373A= ENSP00000479359.1:p.Thr125=
NM_001159508.1:c.196A= NP_001152980.1:p.Thr66=
NM_002225.3:c.286A= NP_002216.2:p.Thr96=
XM_005254350.2:c.286A= XP_005254407.1:p.Thr96=
XM_005254356.2:c.286A= XP_005254413.1:p.Thr96=
XM_006720491.2:c.229A= XP_006720554.1:p.Thr77=
XM_006720492.2:c.286A= XP_006720555.1:p.Thr96=
XM_006720493.2:c.286A= XP_006720556.1:p.Thr96=
XM_006720494.2:c.286A= XP_006720557.1:p.Thr96=
XM_006720495.2:c.286A= XP_006720558.1:p.Thr96=
XM_011521523.1:c.286A= XP_011519825.1:p.Thr96=
XM_011521524.1:c.286A= XP_011519826.1:p.Thr96=
XR_243097.3:n.286A=
XR_243098.2:n.286A=
XR_429453.2:n.387A=
NM_001159508.2:c.187A= NP_001152980.2:p.Thr63=
NM_001354597.2:c.229A= NP_001341526.1:p.Thr77=
NM_001354598.2:c.277A= NP_001341527.2:p.Thr93=
NM_001354599.2:c.364A= NP_001341528.2:p.Thr122=
NM_001354600.2:c.364A= NP_001341529.2:p.Thr122=
NM_001354601.2:c.277A= NP_001341530.2:p.Thr93=
NM_002225.4:c.277A= NP_002216.3:p.Thr93=
NR_148925.1:n.687A=
XM_006720495.3:c.286A= XP_006720558.1:p.Thr96=
XM_017022149.1:c.373A= XP_016877638.1:p.Thr125=
XM_017022150.1:c.373A= XP_016877639.1:p.Thr125=
XM_017022153.1:c.373A= XP_016877642.1:p.Thr125=
XM_017022154.2:c.316A= XP_016877643.1:p.Thr106=
XM_017022155.2:c.373A= XP_016877644.1:p.Thr125=
XM_017022157.1:c.373A= XP_016877646.1:p.Thr125=
XM_017022158.2:c.373A= XP_016877647.1:p.Thr125=
XR_001751263.1:n.636A=
XR_001751264.1:n.677A=
NM_001159508.3:c.187A= NP_001152980.2:p.Thr63=
NM_001354597.3:c.229A= NP_001341526.1:p.Thr77=
NM_001354598.3:c.277A= NP_001341527.2:p.Thr93=
NM_001354599.3:c.364A= NP_001341528.2:p.Thr122=
NM_001354600.3:c.364A= NP_001341529.2:p.Thr122=
NM_001354601.3:c.277A= NP_001341530.2:p.Thr93=
NM_002225.5:c.277A= MANE Select NP_002216.3:p.Thr93=
NR_148925.2:n.689A=