Canonical Allele Identifier: CA2171765796
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411275T= , CM000677.2:g.40411275T= GRCh38
NC_000015.9:g.40703474T= , CM000677.1:g.40703474T= GRCh37
NC_000015.8:g.38490766T= NCBI36
NG_011986.1:g.10789T=
NG_011986.2:g.10791T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.382T= ENSP00000417990.3:p.Tyr128=
ENST00000487418.8:c.472T= MANE Select ENSP00000418397.3:p.Tyr158=
ENST00000610693.5:c.559T= ENSP00000479359.2:p.Tyr187=
ENST00000650656.1:c.391T= ENSP00000498731.1:p.Tyr131=
ENST00000651168.1:c.481T= ENSP00000499074.1:p.Tyr161=
ENST00000473112.6:c.231T=
ENST00000479013.6:c.391T= ENSP00000417990.2:p.Tyr131=
ENST00000481262.6:c.78T=
ENST00000484250.1:n.95T=
ENST00000487418.6:c.481T= ENSP00000418397.2:p.Tyr161=
ENST00000558610.5:c.424T= ENSP00000453821.1:p.Tyr142=
ENST00000610693.4:c.568T= ENSP00000479359.1:p.Tyr190=
NM_001159508.1:c.391T= NP_001152980.1:p.Tyr131=
NM_002225.3:c.481T= NP_002216.2:p.Tyr161=
XM_005254350.2:c.481T= XP_005254407.1:p.Tyr161=
XM_005254356.2:c.481T= XP_005254413.1:p.Tyr161=
XM_006720491.2:c.424T= XP_006720554.1:p.Tyr142=
XM_006720492.2:c.481T= XP_006720555.1:p.Tyr161=
XM_006720493.2:c.481T= XP_006720556.1:p.Tyr161=
XM_006720494.2:c.481T= XP_006720557.1:p.Tyr161=
XM_006720495.2:c.481T= XP_006720558.1:p.Tyr161=
XM_011521523.1:c.481T= XP_011519825.1:p.Tyr161=
XM_011521524.1:c.481T= XP_011519826.1:p.Tyr161=
XR_243097.3:n.481T=
XR_243098.2:n.481T=
XR_429453.2:n.582T=
NM_001159508.2:c.382T= NP_001152980.2:p.Tyr128=
NM_001354597.2:c.424T= NP_001341526.1:p.Tyr142=
NM_001354598.2:c.472T= NP_001341527.2:p.Tyr158=
NM_001354599.2:c.559T= NP_001341528.2:p.Tyr187=
NM_001354600.2:c.559T= NP_001341529.2:p.Tyr187=
NM_001354601.2:c.472T= NP_001341530.2:p.Tyr158=
NM_002225.4:c.472T= NP_002216.3:p.Tyr158=
NR_148925.1:n.882T=
XM_006720495.3:c.481T= XP_006720558.1:p.Tyr161=
XM_017022149.1:c.568T= XP_016877638.1:p.Tyr190=
XM_017022150.1:c.568T= XP_016877639.1:p.Tyr190=
XM_017022153.1:c.568T= XP_016877642.1:p.Tyr190=
XM_017022154.2:c.511T= XP_016877643.1:p.Tyr171=
XM_017022155.2:c.568T= XP_016877644.1:p.Tyr190=
XM_017022157.1:c.568T= XP_016877646.1:p.Tyr190=
XM_017022158.2:c.568T= XP_016877647.1:p.Tyr190=
XR_001751263.1:n.831T=
XR_001751264.1:n.872T=
NM_001159508.3:c.382T= NP_001152980.2:p.Tyr128=
NM_001354597.3:c.424T= NP_001341526.1:p.Tyr142=
NM_001354598.3:c.472T= NP_001341527.2:p.Tyr158=
NM_001354599.3:c.559T= NP_001341528.2:p.Tyr187=
NM_001354600.3:c.559T= NP_001341529.2:p.Tyr187=
NM_001354601.3:c.472T= NP_001341530.2:p.Tyr158=
NM_002225.5:c.472T= MANE Select NP_002216.3:p.Tyr158=
NR_148925.2:n.884T=