Canonical Allele Identifier: CA2171765787
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411262G= , CM000677.2:g.40411262G= GRCh38
NC_000015.9:g.40703461G= , CM000677.1:g.40703461G= GRCh37
NC_000015.8:g.38490753G= NCBI36
NG_011986.1:g.10776G=
NG_011986.2:g.10778G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.369G= ENSP00000417990.3:p.Leu123=
ENST00000487418.8:c.459G= MANE Select ENSP00000418397.3:p.Leu153=
ENST00000610693.5:c.546G= ENSP00000479359.2:p.Leu182=
ENST00000650656.1:c.378G= ENSP00000498731.1:p.Leu126=
ENST00000651168.1:c.468G= ENSP00000499074.1:p.Leu156=
ENST00000473112.6:c.218G=
ENST00000479013.6:c.378G= ENSP00000417990.2:p.Leu126=
ENST00000481262.6:c.65G=
ENST00000484250.1:n.82G=
ENST00000487418.6:c.468G= ENSP00000418397.2:p.Leu156=
ENST00000558610.5:c.411G= ENSP00000453821.1:p.Leu137=
ENST00000610693.4:c.555G= ENSP00000479359.1:p.Leu185=
NM_001159508.1:c.378G= NP_001152980.1:p.Leu126=
NM_002225.3:c.468G= NP_002216.2:p.Leu156=
XM_005254350.2:c.468G= XP_005254407.1:p.Leu156=
XM_005254356.2:c.468G= XP_005254413.1:p.Leu156=
XM_006720491.2:c.411G= XP_006720554.1:p.Leu137=
XM_006720492.2:c.468G= XP_006720555.1:p.Leu156=
XM_006720493.2:c.468G= XP_006720556.1:p.Leu156=
XM_006720494.2:c.468G= XP_006720557.1:p.Leu156=
XM_006720495.2:c.468G= XP_006720558.1:p.Leu156=
XM_011521523.1:c.468G= XP_011519825.1:p.Leu156=
XM_011521524.1:c.468G= XP_011519826.1:p.Leu156=
XR_243097.3:n.468G=
XR_243098.2:n.468G=
XR_429453.2:n.569G=
NM_001159508.2:c.369G= NP_001152980.2:p.Leu123=
NM_001354597.2:c.411G= NP_001341526.1:p.Leu137=
NM_001354598.2:c.459G= NP_001341527.2:p.Leu153=
NM_001354599.2:c.546G= NP_001341528.2:p.Leu182=
NM_001354600.2:c.546G= NP_001341529.2:p.Leu182=
NM_001354601.2:c.459G= NP_001341530.2:p.Leu153=
NM_002225.4:c.459G= NP_002216.3:p.Leu153=
NR_148925.1:n.869G=
XM_006720495.3:c.468G= XP_006720558.1:p.Leu156=
XM_017022149.1:c.555G= XP_016877638.1:p.Leu185=
XM_017022150.1:c.555G= XP_016877639.1:p.Leu185=
XM_017022153.1:c.555G= XP_016877642.1:p.Leu185=
XM_017022154.2:c.498G= XP_016877643.1:p.Leu166=
XM_017022155.2:c.555G= XP_016877644.1:p.Leu185=
XM_017022157.1:c.555G= XP_016877646.1:p.Leu185=
XM_017022158.2:c.555G= XP_016877647.1:p.Leu185=
XR_001751263.1:n.818G=
XR_001751264.1:n.859G=
NM_001159508.3:c.369G= NP_001152980.2:p.Leu123=
NM_001354597.3:c.411G= NP_001341526.1:p.Leu137=
NM_001354598.3:c.459G= NP_001341527.2:p.Leu153=
NM_001354599.3:c.546G= NP_001341528.2:p.Leu182=
NM_001354600.3:c.546G= NP_001341529.2:p.Leu182=
NM_001354601.3:c.459G= NP_001341530.2:p.Leu153=
NM_002225.5:c.459G= MANE Select NP_002216.3:p.Leu153=
NR_148925.2:n.871G=