Canonical Allele Identifier: CA414844315
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707957C>T , CM000686.2:g.19707957C>T GRCh38
NC_000024.9:g.21869843C>T , CM000686.1:g.21869843C>T GRCh37
NC_000024.8:g.20329231C>T NCBI36
NG_032920.1:g.41983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3376G>A MANE Select ENSP00000322408.4:p.Asp1126Asn
ENST00000317961.8:c.3376G>A ENSP00000322408.4:p.Asp1126Asn
ENST00000382806.6:c.3205G>A ENSP00000372256.2:p.Asp1069Asn
ENST00000415360.1:c.292G>A ENSP00000389433.1:p.Asp98Asn
ENST00000440077.5:c.3253G>A ENSP00000398543.1:p.Asp1085Asn
ENST00000469599.6:n.1974G>A
ENST00000492117.1:n.3268G>A
ENST00000541639.5:c.3469G>A ENSP00000444293.1:p.Asp1157Asn
NM_001146705.1:c.3469G>A NP_001140177.1:p.Asp1157Asn
NM_001146706.1:c.3205G>A NP_001140178.1:p.Asp1069Asn
NM_004653.4:c.3376G>A NP_004644.2:p.Asp1126Asn
XM_005262560.1:c.3241G>A XP_005262617.1:p.Asp1081Asn
XM_005262561.1:c.3145G>A XP_005262618.1:p.Asp1049Asn
XM_011531468.1:c.3298G>A XP_011529770.1:p.Asp1100Asn
XR_244571.2:n.3664G>A
XR_430568.2:n.3998G>A
XM_005262560.3:c.3241G>A XP_005262617.1:p.Asp1081Asn
XM_005262561.3:c.3145G>A XP_005262618.1:p.Asp1049Asn
XM_011531468.3:c.3298G>A XP_011529770.1:p.Asp1100Asn
XM_024452495.1:c.1366G>A XP_024308263.1:p.Asp456Asn
XM_024452496.1:c.1132G>A XP_024308264.1:p.Asp378Asn
XR_001756009.2:n.4114G>A
XR_001756010.2:n.4114G>A
XR_001756011.2:n.3979G>A
XR_001756012.2:n.4127G>A
XR_001756013.2:n.3445G>A
XR_002958832.1:n.3546G>A
XR_002958834.1:n.3770G>A
XR_002958835.1:n.3653G>A
XR_002958836.1:n.4336G>A
XR_002958837.1:n.4143G>A
XR_244571.4:n.3663G>A
XR_430568.4:n.3997G>A
NM_001146706.2:c.3205G>A NP_001140178.1:p.Asp1069Asn
NM_004653.5:c.3376G>A MANE Select NP_004644.2:p.Asp1126Asn
NM_001146705.2:c.3469G>A NP_001140177.1:p.Asp1157Asn