Canonical Allele Identifier: CA391716156
Community Standard Title: NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40410635T>G , CM000677.2:g.40410635T>G GRCh38
NC_000015.9:g.40702834T>G , CM000677.1:g.40702834T>G GRCh37
NC_000015.8:g.38490126T>G NCBI36
NG_011986.1:g.10149T>G
NG_011986.2:g.10151T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002225.5:c.294T>G MANE Select NP_002216.3:p.Tyr98Ter
ENST00000487418.8:c.294T>G MANE Select ENSP00000418397.3:p.Tyr98Ter
NM_001159508.1:c.213T>G NP_001152980.1:p.Tyr71Ter
NM_001159508.2:c.204T>G NP_001152980.2:p.Tyr68Ter
NM_001159508.3:c.204T>G NP_001152980.2:p.Tyr68Ter
NM_001354597.2:c.246T>G NP_001341526.1:p.Tyr82Ter
NM_001354597.3:c.246T>G NP_001341526.1:p.Tyr82Ter
NM_001354598.2:c.294T>G NP_001341527.2:p.Tyr98Ter
NM_001354598.3:c.294T>G NP_001341527.2:p.Tyr98Ter
NM_001354599.2:c.381T>G NP_001341528.2:p.Tyr127Ter
NM_001354599.3:c.381T>G NP_001341528.2:p.Tyr127Ter
NM_001354600.2:c.381T>G NP_001341529.2:p.Tyr127Ter
NM_001354600.3:c.381T>G NP_001341529.2:p.Tyr127Ter
NM_001354601.2:c.294T>G NP_001341530.2:p.Tyr98Ter
NM_001354601.3:c.294T>G NP_001341530.2:p.Tyr98Ter
NM_002225.3:c.303T>G NP_002216.2:p.Tyr101Ter
NM_002225.4:c.294T>G NP_002216.3:p.Tyr98Ter
NR_148925.1:n.704T>G
NR_148925.2:n.706T>G
ENST00000473112.6:c.53T>G
ENST00000479013.6:c.213T>G ENSP00000417990.2:p.Tyr71Ter
ENST00000479013.7:c.204T>G ENSP00000417990.3:p.Tyr68Ter
ENST00000487418.6:c.303T>G ENSP00000418397.2:p.Tyr101Ter
ENST00000558610.5:c.246T>G ENSP00000453821.1:p.Tyr82Ter
ENST00000610693.4:c.390T>G ENSP00000479359.1:p.Tyr130Ter
ENST00000610693.5:c.381T>G ENSP00000479359.2:p.Tyr127Ter
ENST00000650656.1:c.213T>G ENSP00000498731.1:p.Tyr71Ter
ENST00000651168.1:c.303T>G ENSP00000499074.1:p.Tyr101Ter
XM_005254350.2:c.303T>G XP_005254407.1:p.Tyr101Ter
XM_005254356.2:c.303T>G XP_005254413.1:p.Tyr101Ter
XM_006720491.2:c.246T>G XP_006720554.1:p.Tyr82Ter
XM_006720492.2:c.303T>G XP_006720555.1:p.Tyr101Ter
XM_006720493.2:c.303T>G XP_006720556.1:p.Tyr101Ter
XM_006720494.2:c.303T>G XP_006720557.1:p.Tyr101Ter
XM_006720495.2:c.303T>G XP_006720558.1:p.Tyr101Ter
XM_006720495.3:c.303T>G XP_006720558.1:p.Tyr101Ter
XM_011521523.1:c.303T>G XP_011519825.1:p.Tyr101Ter
XM_011521524.1:c.303T>G XP_011519826.1:p.Tyr101Ter
XM_017022149.1:c.390T>G XP_016877638.1:p.Tyr130Ter
XM_017022150.1:c.390T>G XP_016877639.1:p.Tyr130Ter
XM_017022153.1:c.390T>G XP_016877642.1:p.Tyr130Ter
XM_017022154.2:c.333T>G XP_016877643.1:p.Tyr111Ter
XM_017022155.2:c.390T>G XP_016877644.1:p.Tyr130Ter
XM_017022157.1:c.390T>G XP_016877646.1:p.Tyr130Ter
XM_017022158.2:c.390T>G XP_016877647.1:p.Tyr130Ter
XR_001751263.1:n.653T>G
XR_001751264.1:n.694T>G
XR_243097.3:n.303T>G
XR_243098.2:n.303T>G
XR_429453.2:n.404T>G