Canonical Allele Identifier: CA2171765946

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411593A= , CM000677.2:g.40411593A=	GRCh38
NC_000015.9:g.40703792A= , CM000677.1:g.40703792A=	GRCh37
NC_000015.8:g.38491084A=	NCBI36
NG_011986.1:g.11107A=
NG_011986.2:g.11109A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.499A=	ENSP00000417990.3:p.Thr167=
ENST00000487418.8:c.589A= MANE Select	ENSP00000418397.3:p.Thr197=
ENST00000650656.1:c.508A=	ENSP00000498731.1:p.Thr170=
ENST00000651168.1:c.598A=	ENSP00000499074.1:p.Thr200=
ENST00000473112.6:c.348A=
ENST00000479013.6:c.508A=	ENSP00000417990.2:p.Thr170=
ENST00000481262.6:c.195A=
ENST00000484250.1:n.212A=
ENST00000487418.6:c.598A=	ENSP00000418397.2:p.Thr200=
ENST00000558610.5:c.541A=	ENSP00000453821.1:p.Thr181=
NM_001159508.1:c.508A=	NP_001152980.1:p.Thr170=
NM_002225.3:c.598A=	NP_002216.2:p.Thr200=
XM_005254350.2:c.598A=	XP_005254407.1:p.Thr200=
XM_005254356.2:c.598A=	XP_005254413.1:p.Thr200=
XM_006720491.2:c.541A=	XP_006720554.1:p.Thr181=
XM_006720492.2:c.598A=	XP_006720555.1:p.Thr200=
XM_006720493.2:c.598A=	XP_006720556.1:p.Thr200=
XM_006720494.2:c.598A=	XP_006720557.1:p.Thr200=
XM_006720495.2:c.598A=	XP_006720558.1:p.Thr200=
XM_011521523.1:c.598A=	XP_011519825.1:p.Thr200=
XM_011521524.1:c.598A=	XP_011519826.1:p.Thr200=
XR_243097.3:n.598A=
XR_243098.2:n.598A=
XR_429453.2:n.699A=
NM_001159508.2:c.499A=	NP_001152980.2:p.Thr167=
NM_001354597.2:c.541A=	NP_001341526.1:p.Thr181=
NM_001354598.2:c.589A=	NP_001341527.2:p.Thr197=
NM_001354599.2:c.676A=	NP_001341528.2:p.Thr226=
NM_001354600.2:c.676A=	NP_001341529.2:p.Thr226=
NM_001354601.2:c.589A=	NP_001341530.2:p.Thr197=
NM_002225.4:c.589A=	NP_002216.3:p.Thr197=
NR_148925.1:n.999A=
XM_006720495.3:c.598A=	XP_006720558.1:p.Thr200=
XM_017022149.1:c.685A=	XP_016877638.1:p.Thr229=
XM_017022150.1:c.685A=	XP_016877639.1:p.Thr229=
XM_017022153.1:c.685A=	XP_016877642.1:p.Thr229=
XM_017022154.2:c.628A=	XP_016877643.1:p.Thr210=
XM_017022155.2:c.685A=	XP_016877644.1:p.Thr229=
XM_017022157.1:c.685A=	XP_016877646.1:p.Thr229=
XM_017022158.2:c.685A=	XP_016877647.1:p.Thr229=
XR_001751263.1:n.948A=
XR_001751264.1:n.989A=
NM_001159508.3:c.499A=	NP_001152980.2:p.Thr167=
NM_001354597.3:c.541A=	NP_001341526.1:p.Thr181=
NM_001354598.3:c.589A=	NP_001341527.2:p.Thr197=
NM_001354599.3:c.676A=	NP_001341528.2:p.Thr226=
NM_001354600.3:c.676A=	NP_001341529.2:p.Thr226=
NM_001354601.3:c.589A=	NP_001341530.2:p.Thr197=
NM_002225.5:c.589A= MANE Select	NP_002216.3:p.Thr197=
NR_148925.2:n.1001A=