Canonical Allele Identifier: CA391745925
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407970T>A , CM000677.2:g.40407970T>A GRCh38
NC_000015.9:g.40700169T>A , CM000677.1:g.40700169T>A GRCh37
NC_000015.8:g.38487461T>A NCBI36
NG_011986.1:g.7484T>A
NG_011986.2:g.7486T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.176T>A ENSP00000417990.3:p.Val59Glu
ENST00000487418.8:c.266T>A MANE Select ENSP00000418397.3:p.Val89Glu
ENST00000610693.5:c.353T>A ENSP00000479359.2:p.Val118Glu
ENST00000650656.1:c.185T>A ENSP00000498731.1:p.Val62Glu
ENST00000651168.1:c.275T>A ENSP00000499074.1:p.Val92Glu
ENST00000473112.6:c.25T>A
ENST00000479013.6:c.185T>A ENSP00000417990.2:p.Val62Glu
ENST00000487418.6:c.275T>A ENSP00000418397.2:p.Val92Glu
ENST00000558610.5:c.218T>A ENSP00000453821.1:p.Val73Glu
ENST00000610693.4:c.362T>A ENSP00000479359.1:p.Val121Glu
NM_001159508.1:c.185T>A NP_001152980.1:p.Val62Glu
NM_002225.3:c.275T>A NP_002216.2:p.Val92Glu
XM_005254350.2:c.275T>A XP_005254407.1:p.Val92Glu
XM_005254356.2:c.275T>A XP_005254413.1:p.Val92Glu
XM_006720491.2:c.218T>A XP_006720554.1:p.Val73Glu
XM_006720492.2:c.275T>A XP_006720555.1:p.Val92Glu
XM_006720493.2:c.275T>A XP_006720556.1:p.Val92Glu
XM_006720494.2:c.275T>A XP_006720557.1:p.Val92Glu
XM_006720495.2:c.275T>A XP_006720558.1:p.Val92Glu
XM_011521523.1:c.275T>A XP_011519825.1:p.Val92Glu
XM_011521524.1:c.275T>A XP_011519826.1:p.Val92Glu
XR_243097.3:n.275T>A
XR_243098.2:n.275T>A
XR_429453.2:n.376T>A
NM_001159508.2:c.176T>A NP_001152980.2:p.Val59Glu
NM_001354597.2:c.218T>A NP_001341526.1:p.Val73Glu
NM_001354598.2:c.266T>A NP_001341527.2:p.Val89Glu
NM_001354599.2:c.353T>A NP_001341528.2:p.Val118Glu
NM_001354600.2:c.353T>A NP_001341529.2:p.Val118Glu
NM_001354601.2:c.266T>A NP_001341530.2:p.Val89Glu
NM_002225.4:c.266T>A NP_002216.3:p.Val89Glu
NR_148925.1:n.676T>A
XM_006720495.3:c.275T>A XP_006720558.1:p.Val92Glu
XM_017022149.1:c.362T>A XP_016877638.1:p.Val121Glu
XM_017022150.1:c.362T>A XP_016877639.1:p.Val121Glu
XM_017022153.1:c.362T>A XP_016877642.1:p.Val121Glu
XM_017022154.2:c.305T>A XP_016877643.1:p.Val102Glu
XM_017022155.2:c.362T>A XP_016877644.1:p.Val121Glu
XM_017022157.1:c.362T>A XP_016877646.1:p.Val121Glu
XM_017022158.2:c.362T>A XP_016877647.1:p.Val121Glu
XR_001751263.1:n.625T>A
XR_001751264.1:n.666T>A
NM_001159508.3:c.176T>A NP_001152980.2:p.Val59Glu
NM_001354597.3:c.218T>A NP_001341526.1:p.Val73Glu
NM_001354598.3:c.266T>A NP_001341527.2:p.Val89Glu
NM_001354599.3:c.353T>A NP_001341528.2:p.Val118Glu
NM_001354600.3:c.353T>A NP_001341529.2:p.Val118Glu
NM_001354601.3:c.266T>A NP_001341530.2:p.Val89Glu
NM_002225.5:c.266T>A MANE Select NP_002216.3:p.Val89Glu
NR_148925.2:n.678T>A