Canonical Allele Identifier: CA2171768111
Community Standard Title: NM_002225.5(IVD):c.1066G= (p.Asp356=)
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40416290G= , CM000677.2:g.40416290G= GRCh38
NC_000015.9:g.40708489G= , CM000677.1:g.40708489G= GRCh37
NC_000015.8:g.38495781G= NCBI36
NG_011986.1:g.15804G=
NG_011986.2:g.15806G=

Transcript Alleles

HGVS Amino-acid Change
NM_002225.5:c.1066G= MANE Select NP_002216.3:p.Asp356=
ENST00000487418.8:c.1066G= MANE Select ENSP00000418397.3:p.Asp356=
NM_001159508.1:c.985G= NP_001152980.1:p.Asp329=
NM_001159508.2:c.976G= NP_001152980.2:p.Asp326=
NM_001159508.3:c.976G= NP_001152980.2:p.Asp326=
NM_001354597.2:c.1018G= NP_001341526.1:p.Asp340=
NM_001354597.3:c.1018G= NP_001341526.1:p.Asp340=
NM_001354598.2:c.1066G= NP_001341527.2:p.Asp356=
NM_001354598.3:c.1066G= NP_001341527.2:p.Asp356=
NM_001354599.2:c.1153G= NP_001341528.2:p.Asp385=
NM_001354599.3:c.1153G= NP_001341528.2:p.Asp385=
NM_001354600.2:c.1153G= NP_001341529.2:p.Asp385=
NM_001354600.3:c.1153G= NP_001341529.2:p.Asp385=
NM_001354601.2:c.1066G= NP_001341530.2:p.Asp356=
NM_001354601.3:c.1066G= NP_001341530.2:p.Asp356=
NM_002225.3:c.1075G= NP_002216.2:p.Asp359=
NM_002225.4:c.1066G= NP_002216.3:p.Asp356=
NR_148925.1:n.1476G=
NR_148925.2:n.1478G=
ENST00000466756.2:c.17G=
ENST00000473112.6:c.719+808G=
ENST00000479013.6:c.985G= ENSP00000417990.2:p.Asp329=
ENST00000479013.7:c.976G= ENSP00000417990.3:p.Asp326=
ENST00000481262.6:c.578G=
ENST00000487418.6:c.1075G= ENSP00000418397.2:p.Asp359=
ENST00000491554.6:c.463G= ENSP00000453146.1:p.Asp155=
ENST00000497252.5:n.447G=
ENST00000497816.1:n.443G=
ENST00000559575.5:c.29G=
ENST00000650656.1:c.985G= ENSP00000498731.1:p.Asp329=
ENST00000651168.1:c.1075G= ENSP00000499074.1:p.Asp359=
XM_005254350.2:c.1075G= XP_005254407.1:p.Asp359=
XM_005254356.2:c.875+808G= XP_005254413.1:n.875+808G=
XM_006720491.2:c.1018G= XP_006720554.1:p.Asp340=
XM_006720492.2:c.1075G= XP_006720555.1:p.Asp359=
XM_006720493.2:c.1075G= XP_006720556.1:p.Asp359=
XM_006720494.2:c.1075G= XP_006720557.1:p.Asp359=
XM_006720495.2:c.969+808G= XP_006720558.1:n.969+808G=
XM_006720495.3:c.969+808G= XP_006720558.1:n.969+808G=
XM_011521523.1:c.1075G= XP_011519825.1:p.Asp359=
XM_017022149.1:c.1162G= XP_016877638.1:p.Asp388=
XM_017022150.1:c.1162G= XP_016877639.1:p.Asp388=
XM_017022153.1:c.1162G= XP_016877642.1:p.Asp388=
XM_017022154.2:c.1105G= XP_016877643.1:p.Asp369=
XM_017022155.2:c.1162G= XP_016877644.1:p.Asp388=
XM_017022157.1:c.1056+808G= XP_016877646.1:n.1056+808G=
XR_001751263.1:n.1425G=
XR_001751264.1:n.1532G=
XR_243097.3:n.981G=
XR_243098.2:n.981G=
XR_429453.2:n.1176G=