Canonical Allele Identifier: CA391720921

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40414969G>C , CM000677.2:g.40414969G>C	GRCh38
NC_000015.9:g.40707168G>C , CM000677.1:g.40707168G>C	GRCh37
NC_000015.8:g.38494460G>C	NCBI36
NG_011986.1:g.14483G>C
NG_011986.2:g.14485G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.865G>C MANE Select	NP_002216.3:p.Gly289Arg
ENST00000487418.8:c.865G>C MANE Select	ENSP00000418397.3:p.Gly289Arg
NM_001159508.1:c.784G>C	NP_001152980.1:p.Gly262Arg
NM_001159508.2:c.775G>C	NP_001152980.2:p.Gly259Arg
NM_001159508.3:c.775G>C	NP_001152980.2:p.Gly259Arg
NM_001354597.2:c.817G>C	NP_001341526.1:p.Gly273Arg
NM_001354597.3:c.817G>C	NP_001341526.1:p.Gly273Arg
NM_001354598.2:c.865G>C	NP_001341527.2:p.Gly289Arg
NM_001354598.3:c.865G>C	NP_001341527.2:p.Gly289Arg
NM_001354599.2:c.952G>C	NP_001341528.2:p.Gly318Arg
NM_001354599.3:c.952G>C	NP_001341528.2:p.Gly318Arg
NM_001354600.2:c.952G>C	NP_001341529.2:p.Gly318Arg
NM_001354600.3:c.952G>C	NP_001341529.2:p.Gly318Arg
NM_001354601.2:c.865G>C	NP_001341530.2:p.Gly289Arg
NM_001354601.3:c.865G>C	NP_001341530.2:p.Gly289Arg
NM_002225.3:c.874G>C	NP_002216.2:p.Gly292Arg
NM_002225.4:c.865G>C	NP_002216.3:p.Gly289Arg
NR_148925.1:n.1275G>C
NR_148925.2:n.1277G>C
ENST00000473112.6:c.624G>C
ENST00000479013.6:c.784G>C	ENSP00000417990.2:p.Gly262Arg
ENST00000479013.7:c.775G>C	ENSP00000417990.3:p.Gly259Arg
ENST00000481262.6:c.391-432G>C
ENST00000487418.6:c.874G>C	ENSP00000418397.2:p.Gly292Arg
ENST00000491554.6:c.262G>C	ENSP00000453146.1:p.Gly88Arg
ENST00000497252.5:n.246G>C
ENST00000560660.1:n.564G>C
ENST00000650656.1:c.784G>C	ENSP00000498731.1:p.Gly262Arg
ENST00000651168.1:c.874G>C	ENSP00000499074.1:p.Gly292Arg
XM_005254350.2:c.874G>C	XP_005254407.1:p.Gly292Arg
XM_005254356.2:c.794-432G>C	XP_005254413.1:n.794-432G>C
XM_006720491.2:c.817G>C	XP_006720554.1:p.Gly273Arg
XM_006720492.2:c.874G>C	XP_006720555.1:p.Gly292Arg
XM_006720493.2:c.874G>C	XP_006720556.1:p.Gly292Arg
XM_006720494.2:c.874G>C	XP_006720557.1:p.Gly292Arg
XM_006720495.2:c.874G>C	XP_006720558.1:p.Gly292Arg
XM_006720495.3:c.874G>C	XP_006720558.1:p.Gly292Arg
XM_011521523.1:c.874G>C	XP_011519825.1:p.Gly292Arg
XM_017022149.1:c.961G>C	XP_016877638.1:p.Gly321Arg
XM_017022150.1:c.961G>C	XP_016877639.1:p.Gly321Arg
XM_017022153.1:c.961G>C	XP_016877642.1:p.Gly321Arg
XM_017022154.2:c.904G>C	XP_016877643.1:p.Gly302Arg
XM_017022155.2:c.961G>C	XP_016877644.1:p.Gly321Arg
XM_017022157.1:c.961G>C	XP_016877646.1:p.Gly321Arg
XR_001751263.1:n.1224G>C
XR_001751264.1:n.1331G>C
XR_243097.3:n.794-432G>C
XR_243098.2:n.794-432G>C
XR_429453.2:n.975G>C