Canonical Allele Identifier: CA2171765959
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411624T= , CM000677.2:g.40411624T= GRCh38
NC_000015.9:g.40703823T= , CM000677.1:g.40703823T= GRCh37
NC_000015.8:g.38491115T= NCBI36
NG_011986.1:g.11138T=
NG_011986.2:g.11140T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.530T= ENSP00000417990.3:p.Val177=
ENST00000487418.8:c.620T= MANE Select ENSP00000418397.3:p.Val207=
ENST00000650656.1:c.539T= ENSP00000498731.1:p.Val180=
ENST00000651168.1:c.629T= ENSP00000499074.1:p.Val210=
ENST00000473112.6:c.379T=
ENST00000479013.6:c.539T= ENSP00000417990.2:p.Val180=
ENST00000481262.6:c.226T=
ENST00000484250.1:n.243T=
ENST00000487418.6:c.629T= ENSP00000418397.2:p.Val210=
ENST00000491554.6:c.17T= ENSP00000453146.1:p.Val6=
ENST00000558610.5:c.572T= ENSP00000453821.1:p.Val191=
NM_001159508.1:c.539T= NP_001152980.1:p.Val180=
NM_002225.3:c.629T= NP_002216.2:p.Val210=
XM_005254350.2:c.629T= XP_005254407.1:p.Val210=
XM_005254356.2:c.629T= XP_005254413.1:p.Val210=
XM_006720491.2:c.572T= XP_006720554.1:p.Val191=
XM_006720492.2:c.629T= XP_006720555.1:p.Val210=
XM_006720493.2:c.629T= XP_006720556.1:p.Val210=
XM_006720494.2:c.629T= XP_006720557.1:p.Val210=
XM_006720495.2:c.629T= XP_006720558.1:p.Val210=
XM_011521523.1:c.629T= XP_011519825.1:p.Val210=
XM_011521524.1:c.629T= XP_011519826.1:p.Val210=
XR_243097.3:n.629T=
XR_243098.2:n.629T=
XR_429453.2:n.730T=
NM_001159508.2:c.530T= NP_001152980.2:p.Val177=
NM_001354597.2:c.572T= NP_001341526.1:p.Val191=
NM_001354598.2:c.620T= NP_001341527.2:p.Val207=
NM_001354599.2:c.707T= NP_001341528.2:p.Val236=
NM_001354600.2:c.707T= NP_001341529.2:p.Val236=
NM_001354601.2:c.620T= NP_001341530.2:p.Val207=
NM_002225.4:c.620T= NP_002216.3:p.Val207=
NR_148925.1:n.1030T=
XM_006720495.3:c.629T= XP_006720558.1:p.Val210=
XM_017022149.1:c.716T= XP_016877638.1:p.Val239=
XM_017022150.1:c.716T= XP_016877639.1:p.Val239=
XM_017022153.1:c.716T= XP_016877642.1:p.Val239=
XM_017022154.2:c.659T= XP_016877643.1:p.Val220=
XM_017022155.2:c.716T= XP_016877644.1:p.Val239=
XM_017022157.1:c.716T= XP_016877646.1:p.Val239=
XM_017022158.2:c.716T= XP_016877647.1:p.Val239=
XR_001751263.1:n.979T=
XR_001751264.1:n.1020T=
NM_001159508.3:c.530T= NP_001152980.2:p.Val177=
NM_001354597.3:c.572T= NP_001341526.1:p.Val191=
NM_001354598.3:c.620T= NP_001341527.2:p.Val207=
NM_001354599.3:c.707T= NP_001341528.2:p.Val236=
NM_001354600.3:c.707T= NP_001341529.2:p.Val236=
NM_001354601.3:c.620T= NP_001341530.2:p.Val207=
NM_002225.5:c.620T= MANE Select NP_002216.3:p.Val207=
NR_148925.2:n.1032T=