Canonical Allele Identifier: CA391716672

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40410756C>G , CM000677.2:g.40410756C>G	GRCh38
NC_000015.9:g.40702955C>G , CM000677.1:g.40702955C>G	GRCh37
NC_000015.8:g.38490247C>G	NCBI36
NG_011986.1:g.10270C>G
NG_011986.2:g.10272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.325C>G	ENSP00000417990.3:p.Arg109Gly
ENST00000487418.8:c.415C>G MANE Select	ENSP00000418397.3:p.Arg139Gly
ENST00000610693.5:c.502C>G	ENSP00000479359.2:p.Arg168Gly
ENST00000650656.1:c.334C>G	ENSP00000498731.1:p.Arg112Gly
ENST00000651168.1:c.424C>G	ENSP00000499074.1:p.Arg142Gly
ENST00000473112.6:c.174C>G
ENST00000479013.6:c.334C>G	ENSP00000417990.2:p.Arg112Gly
ENST00000481262.6:c.21C>G
ENST00000484250.1:n.38C>G
ENST00000487418.6:c.424C>G	ENSP00000418397.2:p.Arg142Gly
ENST00000558610.5:c.367C>G	ENSP00000453821.1:p.Arg123Gly
ENST00000610693.4:c.511C>G	ENSP00000479359.1:p.Arg171Gly
NM_001159508.1:c.334C>G	NP_001152980.1:p.Arg112Gly
NM_002225.3:c.424C>G	NP_002216.2:p.Arg142Gly
XM_005254350.2:c.424C>G	XP_005254407.1:p.Arg142Gly
XM_005254356.2:c.424C>G	XP_005254413.1:p.Arg142Gly
XM_006720491.2:c.367C>G	XP_006720554.1:p.Arg123Gly
XM_006720492.2:c.424C>G	XP_006720555.1:p.Arg142Gly
XM_006720493.2:c.424C>G	XP_006720556.1:p.Arg142Gly
XM_006720494.2:c.424C>G	XP_006720557.1:p.Arg142Gly
XM_006720495.2:c.424C>G	XP_006720558.1:p.Arg142Gly
XM_011521523.1:c.424C>G	XP_011519825.1:p.Arg142Gly
XM_011521524.1:c.424C>G	XP_011519826.1:p.Arg142Gly
XR_243097.3:n.424C>G
XR_243098.2:n.424C>G
XR_429453.2:n.525C>G
NM_001159508.2:c.325C>G	NP_001152980.2:p.Arg109Gly
NM_001354597.2:c.367C>G	NP_001341526.1:p.Arg123Gly
NM_001354598.2:c.415C>G	NP_001341527.2:p.Arg139Gly
NM_001354599.2:c.502C>G	NP_001341528.2:p.Arg168Gly
NM_001354600.2:c.502C>G	NP_001341529.2:p.Arg168Gly
NM_001354601.2:c.415C>G	NP_001341530.2:p.Arg139Gly
NM_002225.4:c.415C>G	NP_002216.3:p.Arg139Gly
NR_148925.1:n.825C>G
XM_006720495.3:c.424C>G	XP_006720558.1:p.Arg142Gly
XM_017022149.1:c.511C>G	XP_016877638.1:p.Arg171Gly
XM_017022150.1:c.511C>G	XP_016877639.1:p.Arg171Gly
XM_017022153.1:c.511C>G	XP_016877642.1:p.Arg171Gly
XM_017022154.2:c.454C>G	XP_016877643.1:p.Arg152Gly
XM_017022155.2:c.511C>G	XP_016877644.1:p.Arg171Gly
XM_017022157.1:c.511C>G	XP_016877646.1:p.Arg171Gly
XM_017022158.2:c.511C>G	XP_016877647.1:p.Arg171Gly
XR_001751263.1:n.774C>G
XR_001751264.1:n.815C>G
NM_001159508.3:c.325C>G	NP_001152980.2:p.Arg109Gly
NM_001354597.3:c.367C>G	NP_001341526.1:p.Arg123Gly
NM_001354598.3:c.415C>G	NP_001341527.2:p.Arg139Gly
NM_001354599.3:c.502C>G	NP_001341528.2:p.Arg168Gly
NM_001354600.3:c.502C>G	NP_001341529.2:p.Arg168Gly
NM_001354601.3:c.415C>G	NP_001341530.2:p.Arg139Gly
NM_002225.5:c.415C>G MANE Select	NP_002216.3:p.Arg139Gly
NR_148925.2:n.827C>G