Canonical Allele Identifier: CA391721561

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40415454C>A , CM000677.2:g.40415454C>A	GRCh38
NC_000015.9:g.40707653C>A , CM000677.1:g.40707653C>A	GRCh37
NC_000015.8:g.38494945C>A	NCBI36
NG_011986.1:g.14968C>A
NG_011986.2:g.14970C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.932C>A MANE Select	NP_002216.3:p.Ala311Asp
ENST00000487418.8:c.932C>A MANE Select	ENSP00000418397.3:p.Ala311Asp
NM_001159508.1:c.851C>A	NP_001152980.1:p.Ala284Asp
NM_001159508.2:c.842C>A	NP_001152980.2:p.Ala281Asp
NM_001159508.3:c.842C>A	NP_001152980.2:p.Ala281Asp
NM_001354597.2:c.884C>A	NP_001341526.1:p.Ala295Asp
NM_001354597.3:c.884C>A	NP_001341526.1:p.Ala295Asp
NM_001354598.2:c.932C>A	NP_001341527.2:p.Ala311Asp
NM_001354598.3:c.932C>A	NP_001341527.2:p.Ala311Asp
NM_001354599.2:c.1019C>A	NP_001341528.2:p.Ala340Asp
NM_001354599.3:c.1019C>A	NP_001341528.2:p.Ala340Asp
NM_001354600.2:c.1019C>A	NP_001341529.2:p.Ala340Asp
NM_001354600.3:c.1019C>A	NP_001341529.2:p.Ala340Asp
NM_001354601.2:c.932C>A	NP_001341530.2:p.Ala311Asp
NM_001354601.3:c.932C>A	NP_001341530.2:p.Ala311Asp
NM_002225.3:c.941C>A	NP_002216.2:p.Ala314Asp
NM_002225.4:c.932C>A	NP_002216.3:p.Ala311Asp
NR_148925.1:n.1342C>A
NR_148925.2:n.1344C>A
ENST00000473112.6:c.691C>A
ENST00000479013.6:c.851C>A	ENSP00000417990.2:p.Ala284Asp
ENST00000479013.7:c.842C>A	ENSP00000417990.3:p.Ala281Asp
ENST00000481262.6:c.444C>A
ENST00000487418.6:c.941C>A	ENSP00000418397.2:p.Ala314Asp
ENST00000491554.6:c.329C>A	ENSP00000453146.1:p.Ala110Asp
ENST00000497252.5:n.313C>A
ENST00000497816.1:n.309C>A
ENST00000560660.1:n.631C>A
ENST00000650656.1:c.851C>A	ENSP00000498731.1:p.Ala284Asp
ENST00000651168.1:c.941C>A	ENSP00000499074.1:p.Ala314Asp
XM_005254350.2:c.941C>A	XP_005254407.1:p.Ala314Asp
XM_005254356.2:c.847C>A	XP_005254413.1:n.847C>A
XM_006720491.2:c.884C>A	XP_006720554.1:p.Ala295Asp
XM_006720492.2:c.941C>A	XP_006720555.1:p.Ala314Asp
XM_006720493.2:c.941C>A	XP_006720556.1:p.Ala314Asp
XM_006720494.2:c.941C>A	XP_006720557.1:p.Ala314Asp
XM_006720495.2:c.941C>A	XP_006720558.1:p.Ala314Asp
XM_006720495.3:c.941C>A	XP_006720558.1:p.Ala314Asp
XM_011521523.1:c.941C>A	XP_011519825.1:p.Ala314Asp
XM_017022149.1:c.1028C>A	XP_016877638.1:p.Ala343Asp
XM_017022150.1:c.1028C>A	XP_016877639.1:p.Ala343Asp
XM_017022153.1:c.1028C>A	XP_016877642.1:p.Ala343Asp
XM_017022154.2:c.971C>A	XP_016877643.1:p.Ala324Asp
XM_017022155.2:c.1028C>A	XP_016877644.1:p.Ala343Asp
XM_017022157.1:c.1028C>A	XP_016877646.1:p.Ala343Asp
XR_001751263.1:n.1291C>A
XR_001751264.1:n.1398C>A
XR_243097.3:n.847C>A
XR_243098.2:n.847C>A
XR_429453.2:n.1042C>A