Canonical Allele Identifier: CA414844666
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708041C>T , CM000686.2:g.19708041C>T GRCh38
NC_000024.9:g.21869927C>T , CM000686.1:g.21869927C>T GRCh37
NC_000024.8:g.20329315C>T NCBI36
NG_032920.1:g.41899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3292G>A MANE Select ENSP00000322408.4:p.Asp1098Asn
ENST00000317961.8:c.3292G>A ENSP00000322408.4:p.Asp1098Asn
ENST00000382806.6:c.3121G>A ENSP00000372256.2:p.Asp1041Asn
ENST00000415360.1:c.208G>A ENSP00000389433.1:p.Asp70Asn
ENST00000440077.5:c.3169G>A ENSP00000398543.1:p.Asp1057Asn
ENST00000469599.6:n.1890G>A
ENST00000492117.1:n.3184G>A
ENST00000541639.5:c.3385G>A ENSP00000444293.1:p.Asp1129Asn
NM_001146705.1:c.3385G>A NP_001140177.1:p.Asp1129Asn
NM_001146706.1:c.3121G>A NP_001140178.1:p.Asp1041Asn
NM_004653.4:c.3292G>A NP_004644.2:p.Asp1098Asn
XM_005262560.1:c.3157G>A XP_005262617.1:p.Asp1053Asn
XM_005262561.1:c.3061G>A XP_005262618.1:p.Asp1021Asn
XM_011531468.1:c.3214G>A XP_011529770.1:p.Asp1072Asn
XR_244571.2:n.3580G>A
XR_430568.2:n.3914G>A
XM_005262560.3:c.3157G>A XP_005262617.1:p.Asp1053Asn
XM_005262561.3:c.3061G>A XP_005262618.1:p.Asp1021Asn
XM_011531468.3:c.3214G>A XP_011529770.1:p.Asp1072Asn
XM_024452495.1:c.1282G>A XP_024308263.1:p.Asp428Asn
XM_024452496.1:c.1048G>A XP_024308264.1:p.Asp350Asn
XR_001756009.2:n.4030G>A
XR_001756010.2:n.4030G>A
XR_001756011.2:n.3895G>A
XR_001756012.2:n.4043G>A
XR_001756013.2:n.3361G>A
XR_002958832.1:n.3462G>A
XR_002958834.1:n.3686G>A
XR_002958835.1:n.3569G>A
XR_002958836.1:n.4252G>A
XR_002958837.1:n.4059G>A
XR_244571.4:n.3579G>A
XR_430568.4:n.3913G>A
NM_001146706.2:c.3121G>A NP_001140178.1:p.Asp1041Asn
NM_004653.5:c.3292G>A MANE Select NP_004644.2:p.Asp1098Asn
NM_001146705.2:c.3385G>A NP_001140177.1:p.Asp1129Asn