Canonical Allele Identifier: CA2171764286
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407978A= , CM000677.2:g.40407978A= GRCh38
NC_000015.9:g.40700177A= , CM000677.1:g.40700177A= GRCh37
NC_000015.8:g.38487469A= NCBI36
NG_011986.1:g.7492A=
NG_011986.2:g.7494A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.184A= ENSP00000417990.3:p.Ile62=
ENST00000487418.8:c.274A= MANE Select ENSP00000418397.3:p.Ile92=
ENST00000610693.5:c.361A= ENSP00000479359.2:p.Ile121=
ENST00000650656.1:c.193A= ENSP00000498731.1:p.Ile65=
ENST00000651168.1:c.283A= ENSP00000499074.1:p.Ile95=
ENST00000473112.6:c.33A=
ENST00000479013.6:c.193A= ENSP00000417990.2:p.Ile65=
ENST00000487418.6:c.283A= ENSP00000418397.2:p.Ile95=
ENST00000558610.5:c.226A= ENSP00000453821.1:p.Ile76=
ENST00000610693.4:c.370A= ENSP00000479359.1:p.Ile124=
NM_001159508.1:c.193A= NP_001152980.1:p.Ile65=
NM_002225.3:c.283A= NP_002216.2:p.Ile95=
XM_005254350.2:c.283A= XP_005254407.1:p.Ile95=
XM_005254356.2:c.283A= XP_005254413.1:p.Ile95=
XM_006720491.2:c.226A= XP_006720554.1:p.Ile76=
XM_006720492.2:c.283A= XP_006720555.1:p.Ile95=
XM_006720493.2:c.283A= XP_006720556.1:p.Ile95=
XM_006720494.2:c.283A= XP_006720557.1:p.Ile95=
XM_006720495.2:c.283A= XP_006720558.1:p.Ile95=
XM_011521523.1:c.283A= XP_011519825.1:p.Ile95=
XM_011521524.1:c.283A= XP_011519826.1:p.Ile95=
XR_243097.3:n.283A=
XR_243098.2:n.283A=
XR_429453.2:n.384A=
NM_001159508.2:c.184A= NP_001152980.2:p.Ile62=
NM_001354597.2:c.226A= NP_001341526.1:p.Ile76=
NM_001354598.2:c.274A= NP_001341527.2:p.Ile92=
NM_001354599.2:c.361A= NP_001341528.2:p.Ile121=
NM_001354600.2:c.361A= NP_001341529.2:p.Ile121=
NM_001354601.2:c.274A= NP_001341530.2:p.Ile92=
NM_002225.4:c.274A= NP_002216.3:p.Ile92=
NR_148925.1:n.684A=
XM_006720495.3:c.283A= XP_006720558.1:p.Ile95=
XM_017022149.1:c.370A= XP_016877638.1:p.Ile124=
XM_017022150.1:c.370A= XP_016877639.1:p.Ile124=
XM_017022153.1:c.370A= XP_016877642.1:p.Ile124=
XM_017022154.2:c.313A= XP_016877643.1:p.Ile105=
XM_017022155.2:c.370A= XP_016877644.1:p.Ile124=
XM_017022157.1:c.370A= XP_016877646.1:p.Ile124=
XM_017022158.2:c.370A= XP_016877647.1:p.Ile124=
XR_001751263.1:n.633A=
XR_001751264.1:n.674A=
NM_001159508.3:c.184A= NP_001152980.2:p.Ile62=
NM_001354597.3:c.226A= NP_001341526.1:p.Ile76=
NM_001354598.3:c.274A= NP_001341527.2:p.Ile92=
NM_001354599.3:c.361A= NP_001341528.2:p.Ile121=
NM_001354600.3:c.361A= NP_001341529.2:p.Ile121=
NM_001354601.3:c.274A= NP_001341530.2:p.Ile92=
NM_002225.5:c.274A= MANE Select NP_002216.3:p.Ile92=
NR_148925.2:n.686A=