Canonical Allele Identifier: CA391721856

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40415483G>A , CM000677.2:g.40415483G>A	GRCh38
NC_000015.9:g.40707682G>A , CM000677.1:g.40707682G>A	GRCh37
NC_000015.8:g.38494974G>A	NCBI36
NG_011986.1:g.14997G>A
NG_011986.2:g.14999G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.960+1G>A MANE Select	NP_002216.3:n.960+1G>A
ENST00000487418.8:c.960+1G>A MANE Select	ENSP00000418397.3:n.960+1G>A
NM_001159508.1:c.879+1G>A	NP_001152980.1:n.879+1G>A
NM_001159508.2:c.870+1G>A	NP_001152980.2:n.870+1G>A
NM_001159508.3:c.870+1G>A	NP_001152980.2:n.870+1G>A
NM_001354597.2:c.912+1G>A	NP_001341526.1:n.912+1G>A
NM_001354597.3:c.912+1G>A	NP_001341526.1:n.912+1G>A
NM_001354598.2:c.960+1G>A	NP_001341527.2:n.960+1G>A
NM_001354598.3:c.960+1G>A	NP_001341527.2:n.960+1G>A
NM_001354599.2:c.1047+1G>A	NP_001341528.2:n.1047+1G>A
NM_001354599.3:c.1047+1G>A	NP_001341528.2:n.1047+1G>A
NM_001354600.2:c.1047+1G>A	NP_001341529.2:n.1047+1G>A
NM_001354600.3:c.1047+1G>A	NP_001341529.2:n.1047+1G>A
NM_001354601.2:c.960+1G>A	NP_001341530.2:n.960+1G>A
NM_001354601.3:c.960+1G>A	NP_001341530.2:n.960+1G>A
NM_002225.3:c.969+1G>A	NP_002216.2:n.969+1G>A
NM_002225.4:c.960+1G>A	NP_002216.3:n.960+1G>A
NR_148925.1:n.1370+1G>A
NR_148925.2:n.1372+1G>A
ENST00000473112.6:c.719+1G>A
ENST00000479013.6:c.879+1G>A	ENSP00000417990.2:n.879+1G>A
ENST00000479013.7:c.870+1G>A	ENSP00000417990.3:n.870+1G>A
ENST00000481262.6:c.472+1G>A
ENST00000487418.6:c.969+1G>A	ENSP00000418397.2:n.969+1G>A
ENST00000491554.6:c.357+1G>A	ENSP00000453146.1:n.357+1G>A
ENST00000497252.5:n.341+1G>A
ENST00000497816.1:n.337+1G>A
ENST00000650656.1:c.879+1G>A	ENSP00000498731.1:n.879+1G>A
ENST00000651168.1:c.969+1G>A	ENSP00000499074.1:n.969+1G>A
XM_005254350.2:c.969+1G>A	XP_005254407.1:n.969+1G>A
XM_005254356.2:c.875+1G>A	XP_005254413.1:n.875+1G>A
XM_006720491.2:c.912+1G>A	XP_006720554.1:n.912+1G>A
XM_006720492.2:c.969+1G>A	XP_006720555.1:n.969+1G>A
XM_006720493.2:c.969+1G>A	XP_006720556.1:n.969+1G>A
XM_006720494.2:c.969+1G>A	XP_006720557.1:n.969+1G>A
XM_006720495.2:c.969+1G>A	XP_006720558.1:n.969+1G>A
XM_006720495.3:c.969+1G>A	XP_006720558.1:n.969+1G>A
XM_011521523.1:c.969+1G>A	XP_011519825.1:n.969+1G>A
XM_017022149.1:c.1056+1G>A	XP_016877638.1:n.1056+1G>A
XM_017022150.1:c.1056+1G>A	XP_016877639.1:n.1056+1G>A
XM_017022153.1:c.1056+1G>A	XP_016877642.1:n.1056+1G>A
XM_017022154.2:c.999+1G>A	XP_016877643.1:n.999+1G>A
XM_017022155.2:c.1056+1G>A	XP_016877644.1:n.1056+1G>A
XM_017022157.1:c.1056+1G>A	XP_016877646.1:n.1056+1G>A
XR_001751263.1:n.1319+1G>A
XR_001751264.1:n.1426+1G>A
XR_243097.3:n.875+1G>A
XR_243098.2:n.875+1G>A
XR_429453.2:n.1070+1G>A