Canonical Allele Identifier: CA391720254

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40414887A>T , CM000677.2:g.40414887A>T	GRCh38
NC_000015.9:g.40707086A>T , CM000677.1:g.40707086A>T	GRCh37
NC_000015.8:g.38494378A>T	NCBI36
NG_011986.1:g.14401A>T
NG_011986.2:g.14403A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.785-2A>T MANE Select	NP_002216.3:n.785-2A>T
ENST00000487418.8:c.785-2A>T MANE Select	ENSP00000418397.3:n.785-2A>T
NM_001159508.1:c.704-2A>T	NP_001152980.1:n.704-2A>T
NM_001159508.2:c.695-2A>T	NP_001152980.2:n.695-2A>T
NM_001159508.3:c.695-2A>T	NP_001152980.2:n.695-2A>T
NM_001354597.2:c.737-2A>T	NP_001341526.1:n.737-2A>T
NM_001354597.3:c.737-2A>T	NP_001341526.1:n.737-2A>T
NM_001354598.2:c.785-2A>T	NP_001341527.2:n.785-2A>T
NM_001354598.3:c.785-2A>T	NP_001341527.2:n.785-2A>T
NM_001354599.2:c.872-2A>T	NP_001341528.2:n.872-2A>T
NM_001354599.3:c.872-2A>T	NP_001341528.2:n.872-2A>T
NM_001354600.2:c.872-2A>T	NP_001341529.2:n.872-2A>T
NM_001354600.3:c.872-2A>T	NP_001341529.2:n.872-2A>T
NM_001354601.2:c.785-2A>T	NP_001341530.2:n.785-2A>T
NM_001354601.3:c.785-2A>T	NP_001341530.2:n.785-2A>T
NM_002225.3:c.794-2A>T	NP_002216.2:n.794-2A>T
NM_002225.4:c.785-2A>T	NP_002216.3:n.785-2A>T
NR_148925.1:n.1195-2A>T
NR_148925.2:n.1197-2A>T
ENST00000473112.6:c.544-2A>T
ENST00000479013.6:c.704-2A>T	ENSP00000417990.2:n.704-2A>T
ENST00000479013.7:c.695-2A>T	ENSP00000417990.3:n.695-2A>T
ENST00000481262.6:c.391-514A>T
ENST00000487418.6:c.794-2A>T	ENSP00000418397.2:n.794-2A>T
ENST00000491554.6:c.182-2A>T	ENSP00000453146.1:n.182-2A>T
ENST00000497252.5:n.166-2A>T
ENST00000560660.1:n.482A>T
ENST00000650656.1:c.704-2A>T	ENSP00000498731.1:n.704-2A>T
ENST00000651168.1:c.794-2A>T	ENSP00000499074.1:n.794-2A>T
XM_005254350.2:c.794-2A>T	XP_005254407.1:n.794-2A>T
XM_005254356.2:c.794-514A>T	XP_005254413.1:n.794-514A>T
XM_006720491.2:c.737-2A>T	XP_006720554.1:n.737-2A>T
XM_006720492.2:c.794-2A>T	XP_006720555.1:n.794-2A>T
XM_006720493.2:c.794-2A>T	XP_006720556.1:n.794-2A>T
XM_006720494.2:c.794-2A>T	XP_006720557.1:n.794-2A>T
XM_006720495.2:c.794-2A>T	XP_006720558.1:n.794-2A>T
XM_006720495.3:c.794-2A>T	XP_006720558.1:n.794-2A>T
XM_011521523.1:c.794-2A>T	XP_011519825.1:n.794-2A>T
XM_011521524.1:c.858A>T	XP_011519826.1:n.858A>T
XM_017022149.1:c.881-2A>T	XP_016877638.1:n.881-2A>T
XM_017022150.1:c.881-2A>T	XP_016877639.1:n.881-2A>T
XM_017022153.1:c.881-2A>T	XP_016877642.1:n.881-2A>T
XM_017022154.2:c.824-2A>T	XP_016877643.1:n.824-2A>T
XM_017022155.2:c.881-2A>T	XP_016877644.1:n.881-2A>T
XM_017022157.1:c.881-2A>T	XP_016877646.1:n.881-2A>T
XM_017022158.2:c.*18A>T	XP_016877647.1:n.*18A>T
XR_001751263.1:n.1144-2A>T
XR_001751264.1:n.1249A>T
XR_243097.3:n.794-514A>T
XR_243098.2:n.794-514A>T
XR_429453.2:n.895-2A>T