Canonical Allele Identifier: CA414844021
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707681G>T , CM000686.2:g.19707681G>T GRCh38
NC_000024.9:g.21869567G>T , CM000686.1:g.21869567G>T GRCh37
NC_000024.8:g.20328955G>T NCBI36
NG_032920.1:g.42259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3465C>A MANE Select ENSP00000322408.4:p.Asn1155Lys
ENST00000317961.8:c.3465C>A ENSP00000322408.4:p.Asn1155Lys
ENST00000382806.6:c.3294C>A ENSP00000372256.2:p.Asn1098Lys
ENST00000415360.1:c.381C>A ENSP00000389433.1:p.Asn127Lys
ENST00000440077.5:c.3342C>A ENSP00000398543.1:p.Asn1114Lys
ENST00000469599.6:n.2063C>A
ENST00000492117.1:n.3357C>A
ENST00000541639.5:c.3558C>A ENSP00000444293.1:p.Asn1186Lys
NM_001146705.1:c.3558C>A NP_001140177.1:p.Asn1186Lys
NM_001146706.1:c.3294C>A NP_001140178.1:p.Asn1098Lys
NM_004653.4:c.3465C>A NP_004644.2:p.Asn1155Lys
XM_005262560.1:c.3330C>A XP_005262617.1:p.Asn1110Lys
XM_005262561.1:c.3234C>A XP_005262618.1:p.Asn1078Lys
XM_011531468.1:c.3387C>A XP_011529770.1:p.Asn1129Lys
XR_244571.2:n.3753C>A
XR_430568.2:n.4087C>A
XM_005262560.3:c.3330C>A XP_005262617.1:p.Asn1110Lys
XM_005262561.3:c.3234C>A XP_005262618.1:p.Asn1078Lys
XM_011531468.3:c.3387C>A XP_011529770.1:p.Asn1129Lys
XM_024452495.1:c.1455C>A XP_024308263.1:p.Asn485Lys
XM_024452496.1:c.1221C>A XP_024308264.1:p.Asn407Lys
XR_001756009.2:n.4203C>A
XR_001756010.2:n.4203C>A
XR_001756011.2:n.4068C>A
XR_001756012.2:n.4216C>A
XR_001756013.2:n.3534C>A
XR_002958832.1:n.3635C>A
XR_002958834.1:n.3859C>A
XR_002958835.1:n.3742C>A
XR_002958836.1:n.4425C>A
XR_002958837.1:n.4232C>A
XR_244571.4:n.3752C>A
XR_430568.4:n.4086C>A
NM_001146706.2:c.3294C>A NP_001140178.1:p.Asn1098Lys
NM_004653.5:c.3465C>A MANE Select NP_004644.2:p.Asn1155Lys
NM_001146705.2:c.3558C>A NP_001140177.1:p.Asn1186Lys