Canonical Allele Identifier: CA391717133
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411305A>G , CM000677.2:g.40411305A>G GRCh38
NC_000015.9:g.40703504A>G , CM000677.1:g.40703504A>G GRCh37
NC_000015.8:g.38490796A>G NCBI36
NG_011986.1:g.10819A>G
NG_011986.2:g.10821A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.412A>G ENSP00000417990.3:p.Asn138Asp
ENST00000487418.8:c.502A>G MANE Select ENSP00000418397.3:p.Asn168Asp
ENST00000610693.5:c.589A>G ENSP00000479359.2:p.Asn197Asp
ENST00000650656.1:c.421A>G ENSP00000498731.1:p.Asn141Asp
ENST00000651168.1:c.511A>G ENSP00000499074.1:p.Asn171Asp
ENST00000473112.6:c.261A>G
ENST00000479013.6:c.421A>G ENSP00000417990.2:p.Asn141Asp
ENST00000481262.6:c.108A>G
ENST00000484250.1:n.125A>G
ENST00000487418.6:c.511A>G ENSP00000418397.2:p.Asn171Asp
ENST00000558610.5:c.454A>G ENSP00000453821.1:p.Asn152Asp
ENST00000610693.4:c.598A>G ENSP00000479359.1:p.Asn200Asp
NM_001159508.1:c.421A>G NP_001152980.1:p.Asn141Asp
NM_002225.3:c.511A>G NP_002216.2:p.Asn171Asp
XM_005254350.2:c.511A>G XP_005254407.1:p.Asn171Asp
XM_005254356.2:c.511A>G XP_005254413.1:p.Asn171Asp
XM_006720491.2:c.454A>G XP_006720554.1:p.Asn152Asp
XM_006720492.2:c.511A>G XP_006720555.1:p.Asn171Asp
XM_006720493.2:c.511A>G XP_006720556.1:p.Asn171Asp
XM_006720494.2:c.511A>G XP_006720557.1:p.Asn171Asp
XM_006720495.2:c.511A>G XP_006720558.1:p.Asn171Asp
XM_011521523.1:c.511A>G XP_011519825.1:p.Asn171Asp
XM_011521524.1:c.511A>G XP_011519826.1:p.Asn171Asp
XR_243097.3:n.511A>G
XR_243098.2:n.511A>G
XR_429453.2:n.612A>G
NM_001159508.2:c.412A>G NP_001152980.2:p.Asn138Asp
NM_001354597.2:c.454A>G NP_001341526.1:p.Asn152Asp
NM_001354598.2:c.502A>G NP_001341527.2:p.Asn168Asp
NM_001354599.2:c.589A>G NP_001341528.2:p.Asn197Asp
NM_001354600.2:c.589A>G NP_001341529.2:p.Asn197Asp
NM_001354601.2:c.502A>G NP_001341530.2:p.Asn168Asp
NM_002225.4:c.502A>G NP_002216.3:p.Asn168Asp
NR_148925.1:n.912A>G
XM_006720495.3:c.511A>G XP_006720558.1:p.Asn171Asp
XM_017022149.1:c.598A>G XP_016877638.1:p.Asn200Asp
XM_017022150.1:c.598A>G XP_016877639.1:p.Asn200Asp
XM_017022153.1:c.598A>G XP_016877642.1:p.Asn200Asp
XM_017022154.2:c.541A>G XP_016877643.1:p.Asn181Asp
XM_017022155.2:c.598A>G XP_016877644.1:p.Asn200Asp
XM_017022157.1:c.598A>G XP_016877646.1:p.Asn200Asp
XM_017022158.2:c.598A>G XP_016877647.1:p.Asn200Asp
XR_001751263.1:n.861A>G
XR_001751264.1:n.902A>G
NM_001159508.3:c.412A>G NP_001152980.2:p.Asn138Asp
NM_001354597.3:c.454A>G NP_001341526.1:p.Asn152Asp
NM_001354598.3:c.502A>G NP_001341527.2:p.Asn168Asp
NM_001354599.3:c.589A>G NP_001341528.2:p.Asn197Asp
NM_001354600.3:c.589A>G NP_001341529.2:p.Asn197Asp
NM_001354601.3:c.502A>G NP_001341530.2:p.Asn168Asp
NM_002225.5:c.502A>G MANE Select NP_002216.3:p.Asn168Asp
NR_148925.2:n.914A>G