Canonical Allele Identifier: CA2171765939

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411573A= , CM000677.2:g.40411573A=	GRCh38
NC_000015.9:g.40703772A= , CM000677.1:g.40703772A=	GRCh37
NC_000015.8:g.38491064A=	NCBI36
NG_011986.1:g.11087A=
NG_011986.2:g.11089A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.479A=	ENSP00000417990.3:p.Asn160=
ENST00000487418.8:c.569A= MANE Select	ENSP00000418397.3:p.Asn190=
ENST00000650656.1:c.488A=	ENSP00000498731.1:p.Asn163=
ENST00000651168.1:c.578A=	ENSP00000499074.1:p.Asn193=
ENST00000473112.6:c.328A=
ENST00000479013.6:c.488A=	ENSP00000417990.2:p.Asn163=
ENST00000481262.6:c.175A=
ENST00000484250.1:n.192A=
ENST00000487418.6:c.578A=	ENSP00000418397.2:p.Asn193=
ENST00000558610.5:c.521A=	ENSP00000453821.1:p.Asn174=
NM_001159508.1:c.488A=	NP_001152980.1:p.Asn163=
NM_002225.3:c.578A=	NP_002216.2:p.Asn193=
XM_005254350.2:c.578A=	XP_005254407.1:p.Asn193=
XM_005254356.2:c.578A=	XP_005254413.1:p.Asn193=
XM_006720491.2:c.521A=	XP_006720554.1:p.Asn174=
XM_006720492.2:c.578A=	XP_006720555.1:p.Asn193=
XM_006720493.2:c.578A=	XP_006720556.1:p.Asn193=
XM_006720494.2:c.578A=	XP_006720557.1:p.Asn193=
XM_006720495.2:c.578A=	XP_006720558.1:p.Asn193=
XM_011521523.1:c.578A=	XP_011519825.1:p.Asn193=
XM_011521524.1:c.578A=	XP_011519826.1:p.Asn193=
XR_243097.3:n.578A=
XR_243098.2:n.578A=
XR_429453.2:n.679A=
NM_001159508.2:c.479A=	NP_001152980.2:p.Asn160=
NM_001354597.2:c.521A=	NP_001341526.1:p.Asn174=
NM_001354598.2:c.569A=	NP_001341527.2:p.Asn190=
NM_001354599.2:c.656A=	NP_001341528.2:p.Asn219=
NM_001354600.2:c.656A=	NP_001341529.2:p.Asn219=
NM_001354601.2:c.569A=	NP_001341530.2:p.Asn190=
NM_002225.4:c.569A=	NP_002216.3:p.Asn190=
NR_148925.1:n.979A=
XM_006720495.3:c.578A=	XP_006720558.1:p.Asn193=
XM_017022149.1:c.665A=	XP_016877638.1:p.Asn222=
XM_017022150.1:c.665A=	XP_016877639.1:p.Asn222=
XM_017022153.1:c.665A=	XP_016877642.1:p.Asn222=
XM_017022154.2:c.608A=	XP_016877643.1:p.Asn203=
XM_017022155.2:c.665A=	XP_016877644.1:p.Asn222=
XM_017022157.1:c.665A=	XP_016877646.1:p.Asn222=
XM_017022158.2:c.665A=	XP_016877647.1:p.Asn222=
XR_001751263.1:n.928A=
XR_001751264.1:n.969A=
NM_001159508.3:c.479A=	NP_001152980.2:p.Asn160=
NM_001354597.3:c.521A=	NP_001341526.1:p.Asn174=
NM_001354598.3:c.569A=	NP_001341527.2:p.Asn190=
NM_001354599.3:c.656A=	NP_001341528.2:p.Asn219=
NM_001354600.3:c.656A=	NP_001341529.2:p.Asn219=
NM_001354601.3:c.569A=	NP_001341530.2:p.Asn190=
NM_002225.5:c.569A= MANE Select	NP_002216.3:p.Asn190=
NR_148925.2:n.981A=