Canonical Allele Identifier: CA391717193
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411327C>A , CM000677.2:g.40411327C>A GRCh38
NC_000015.9:g.40703526C>A , CM000677.1:g.40703526C>A GRCh37
NC_000015.8:g.38490818C>A NCBI36
NG_011986.1:g.10841C>A
NG_011986.2:g.10843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.434C>A ENSP00000417990.3:p.Ser145Tyr
ENST00000487418.8:c.524C>A MANE Select ENSP00000418397.3:p.Ser175Tyr
ENST00000610693.5:c.611C>A ENSP00000479359.2:p.Ser204Tyr
ENST00000650656.1:c.443C>A ENSP00000498731.1:p.Ser148Tyr
ENST00000651168.1:c.533C>A ENSP00000499074.1:p.Ser178Tyr
ENST00000473112.6:c.283C>A
ENST00000479013.6:c.443C>A ENSP00000417990.2:p.Ser148Tyr
ENST00000481262.6:c.130C>A
ENST00000484250.1:n.147C>A
ENST00000487418.6:c.533C>A ENSP00000418397.2:p.Ser178Tyr
ENST00000558610.5:c.476C>A ENSP00000453821.1:p.Ser159Tyr
ENST00000610693.4:c.620C>A ENSP00000479359.1:p.Ser207Tyr
NM_001159508.1:c.443C>A NP_001152980.1:p.Ser148Tyr
NM_002225.3:c.533C>A NP_002216.2:p.Ser178Tyr
XM_005254350.2:c.533C>A XP_005254407.1:p.Ser178Tyr
XM_005254356.2:c.533C>A XP_005254413.1:p.Ser178Tyr
XM_006720491.2:c.476C>A XP_006720554.1:p.Ser159Tyr
XM_006720492.2:c.533C>A XP_006720555.1:p.Ser178Tyr
XM_006720493.2:c.533C>A XP_006720556.1:p.Ser178Tyr
XM_006720494.2:c.533C>A XP_006720557.1:p.Ser178Tyr
XM_006720495.2:c.533C>A XP_006720558.1:p.Ser178Tyr
XM_011521523.1:c.533C>A XP_011519825.1:p.Ser178Tyr
XM_011521524.1:c.533C>A XP_011519826.1:p.Ser178Tyr
XR_243097.3:n.533C>A
XR_243098.2:n.533C>A
XR_429453.2:n.634C>A
NM_001159508.2:c.434C>A NP_001152980.2:p.Ser145Tyr
NM_001354597.2:c.476C>A NP_001341526.1:p.Ser159Tyr
NM_001354598.2:c.524C>A NP_001341527.2:p.Ser175Tyr
NM_001354599.2:c.611C>A NP_001341528.2:p.Ser204Tyr
NM_001354600.2:c.611C>A NP_001341529.2:p.Ser204Tyr
NM_001354601.2:c.524C>A NP_001341530.2:p.Ser175Tyr
NM_002225.4:c.524C>A NP_002216.3:p.Ser175Tyr
NR_148925.1:n.934C>A
XM_006720495.3:c.533C>A XP_006720558.1:p.Ser178Tyr
XM_017022149.1:c.620C>A XP_016877638.1:p.Ser207Tyr
XM_017022150.1:c.620C>A XP_016877639.1:p.Ser207Tyr
XM_017022153.1:c.620C>A XP_016877642.1:p.Ser207Tyr
XM_017022154.2:c.563C>A XP_016877643.1:p.Ser188Tyr
XM_017022155.2:c.620C>A XP_016877644.1:p.Ser207Tyr
XM_017022157.1:c.620C>A XP_016877646.1:p.Ser207Tyr
XM_017022158.2:c.620C>A XP_016877647.1:p.Ser207Tyr
XR_001751263.1:n.883C>A
XR_001751264.1:n.924C>A
NM_001159508.3:c.434C>A NP_001152980.2:p.Ser145Tyr
NM_001354597.3:c.476C>A NP_001341526.1:p.Ser159Tyr
NM_001354598.3:c.524C>A NP_001341527.2:p.Ser175Tyr
NM_001354599.3:c.611C>A NP_001341528.2:p.Ser204Tyr
NM_001354600.3:c.611C>A NP_001341529.2:p.Ser204Tyr
NM_001354601.3:c.524C>A NP_001341530.2:p.Ser175Tyr
NM_002225.5:c.524C>A MANE Select NP_002216.3:p.Ser175Tyr
NR_148925.2:n.936C>A