Canonical Allele Identifier: CA391717669
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411611G>T , CM000677.2:g.40411611G>T GRCh38
NC_000015.9:g.40703810G>T , CM000677.1:g.40703810G>T GRCh37
NC_000015.8:g.38491102G>T NCBI36
NG_011986.1:g.11125G>T
NG_011986.2:g.11127G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.517G>T ENSP00000417990.3:p.Asp173Tyr
ENST00000487418.8:c.607G>T MANE Select ENSP00000418397.3:p.Asp203Tyr
ENST00000650656.1:c.526G>T ENSP00000498731.1:p.Asp176Tyr
ENST00000651168.1:c.616G>T ENSP00000499074.1:p.Asp206Tyr
ENST00000473112.6:c.366G>T
ENST00000479013.6:c.526G>T ENSP00000417990.2:p.Asp176Tyr
ENST00000481262.6:c.213G>T
ENST00000484250.1:n.230G>T
ENST00000487418.6:c.616G>T ENSP00000418397.2:p.Asp206Tyr
ENST00000491554.6:c.4G>T ENSP00000453146.1:p.Asp2Tyr
ENST00000558610.5:c.559G>T ENSP00000453821.1:p.Asp187Tyr
NM_001159508.1:c.526G>T NP_001152980.1:p.Asp176Tyr
NM_002225.3:c.616G>T NP_002216.2:p.Asp206Tyr
XM_005254350.2:c.616G>T XP_005254407.1:p.Asp206Tyr
XM_005254356.2:c.616G>T XP_005254413.1:p.Asp206Tyr
XM_006720491.2:c.559G>T XP_006720554.1:p.Asp187Tyr
XM_006720492.2:c.616G>T XP_006720555.1:p.Asp206Tyr
XM_006720493.2:c.616G>T XP_006720556.1:p.Asp206Tyr
XM_006720494.2:c.616G>T XP_006720557.1:p.Asp206Tyr
XM_006720495.2:c.616G>T XP_006720558.1:p.Asp206Tyr
XM_011521523.1:c.616G>T XP_011519825.1:p.Asp206Tyr
XM_011521524.1:c.616G>T XP_011519826.1:p.Asp206Tyr
XR_243097.3:n.616G>T
XR_243098.2:n.616G>T
XR_429453.2:n.717G>T
NM_001159508.2:c.517G>T NP_001152980.2:p.Asp173Tyr
NM_001354597.2:c.559G>T NP_001341526.1:p.Asp187Tyr
NM_001354598.2:c.607G>T NP_001341527.2:p.Asp203Tyr
NM_001354599.2:c.694G>T NP_001341528.2:p.Asp232Tyr
NM_001354600.2:c.694G>T NP_001341529.2:p.Asp232Tyr
NM_001354601.2:c.607G>T NP_001341530.2:p.Asp203Tyr
NM_002225.4:c.607G>T NP_002216.3:p.Asp203Tyr
NR_148925.1:n.1017G>T
XM_006720495.3:c.616G>T XP_006720558.1:p.Asp206Tyr
XM_017022149.1:c.703G>T XP_016877638.1:p.Asp235Tyr
XM_017022150.1:c.703G>T XP_016877639.1:p.Asp235Tyr
XM_017022153.1:c.703G>T XP_016877642.1:p.Asp235Tyr
XM_017022154.2:c.646G>T XP_016877643.1:p.Asp216Tyr
XM_017022155.2:c.703G>T XP_016877644.1:p.Asp235Tyr
XM_017022157.1:c.703G>T XP_016877646.1:p.Asp235Tyr
XM_017022158.2:c.703G>T XP_016877647.1:p.Asp235Tyr
XR_001751263.1:n.966G>T
XR_001751264.1:n.1007G>T
NM_001159508.3:c.517G>T NP_001152980.2:p.Asp173Tyr
NM_001354597.3:c.559G>T NP_001341526.1:p.Asp187Tyr
NM_001354598.3:c.607G>T NP_001341527.2:p.Asp203Tyr
NM_001354599.3:c.694G>T NP_001341528.2:p.Asp232Tyr
NM_001354600.3:c.694G>T NP_001341529.2:p.Asp232Tyr
NM_001354601.3:c.607G>T NP_001341530.2:p.Asp203Tyr
NM_002225.5:c.607G>T MANE Select NP_002216.3:p.Asp203Tyr
NR_148925.2:n.1019G>T