Canonical Allele Identifier: CA391717868
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411666G>C , CM000677.2:g.40411666G>C GRCh38
NC_000015.9:g.40703865G>C , CM000677.1:g.40703865G>C GRCh37
NC_000015.8:g.38491157G>C NCBI36
NG_011986.1:g.11180G>C
NG_011986.2:g.11182G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.572G>C ENSP00000417990.3:p.Gly191Ala
ENST00000487418.8:c.662G>C MANE Select ENSP00000418397.3:p.Gly221Ala
ENST00000650656.1:c.581G>C ENSP00000498731.1:p.Gly194Ala
ENST00000651168.1:c.671G>C ENSP00000499074.1:p.Gly224Ala
ENST00000473112.6:c.421G>C
ENST00000479013.6:c.581G>C ENSP00000417990.2:p.Gly194Ala
ENST00000481262.6:c.268G>C
ENST00000484250.1:n.285G>C
ENST00000487418.6:c.671G>C ENSP00000418397.2:p.Gly224Ala
ENST00000491554.6:c.59G>C ENSP00000453146.1:p.Gly20Ala
ENST00000558610.5:c.614G>C ENSP00000453821.1:p.Gly205Ala
NM_001159508.1:c.581G>C NP_001152980.1:p.Gly194Ala
NM_002225.3:c.671G>C NP_002216.2:p.Gly224Ala
XM_005254350.2:c.671G>C XP_005254407.1:p.Gly224Ala
XM_005254356.2:c.671G>C XP_005254413.1:p.Gly224Ala
XM_006720491.2:c.614G>C XP_006720554.1:p.Gly205Ala
XM_006720492.2:c.671G>C XP_006720555.1:p.Gly224Ala
XM_006720493.2:c.671G>C XP_006720556.1:p.Gly224Ala
XM_006720494.2:c.671G>C XP_006720557.1:p.Gly224Ala
XM_006720495.2:c.671G>C XP_006720558.1:p.Gly224Ala
XM_011521523.1:c.671G>C XP_011519825.1:p.Gly224Ala
XM_011521524.1:c.671G>C XP_011519826.1:p.Gly224Ala
XR_243097.3:n.671G>C
XR_243098.2:n.671G>C
XR_429453.2:n.772G>C
NM_001159508.2:c.572G>C NP_001152980.2:p.Gly191Ala
NM_001354597.2:c.614G>C NP_001341526.1:p.Gly205Ala
NM_001354598.2:c.662G>C NP_001341527.2:p.Gly221Ala
NM_001354599.2:c.749G>C NP_001341528.2:p.Gly250Ala
NM_001354600.2:c.749G>C NP_001341529.2:p.Gly250Ala
NM_001354601.2:c.662G>C NP_001341530.2:p.Gly221Ala
NM_002225.4:c.662G>C NP_002216.3:p.Gly221Ala
NR_148925.1:n.1072G>C
XM_006720495.3:c.671G>C XP_006720558.1:p.Gly224Ala
XM_017022149.1:c.758G>C XP_016877638.1:p.Gly253Ala
XM_017022150.1:c.758G>C XP_016877639.1:p.Gly253Ala
XM_017022153.1:c.758G>C XP_016877642.1:p.Gly253Ala
XM_017022154.2:c.701G>C XP_016877643.1:p.Gly234Ala
XM_017022155.2:c.758G>C XP_016877644.1:p.Gly253Ala
XM_017022157.1:c.758G>C XP_016877646.1:p.Gly253Ala
XM_017022158.2:c.758G>C XP_016877647.1:p.Gly253Ala
XR_001751263.1:n.1021G>C
XR_001751264.1:n.1062G>C
NM_001159508.3:c.572G>C NP_001152980.2:p.Gly191Ala
NM_001354597.3:c.614G>C NP_001341526.1:p.Gly205Ala
NM_001354598.3:c.662G>C NP_001341527.2:p.Gly221Ala
NM_001354599.3:c.749G>C NP_001341528.2:p.Gly250Ala
NM_001354600.3:c.749G>C NP_001341529.2:p.Gly250Ala
NM_001354601.3:c.662G>C NP_001341530.2:p.Gly221Ala
NM_002225.5:c.662G>C MANE Select NP_002216.3:p.Gly221Ala
NR_148925.2:n.1074G>C