Canonical Allele Identifier: CA414844411
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707987C>T , CM000686.2:g.19707987C>T GRCh38
NC_000024.9:g.21869873C>T , CM000686.1:g.21869873C>T GRCh37
NC_000024.8:g.20329261C>T NCBI36
NG_032920.1:g.41953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3346G>A MANE Select ENSP00000322408.4:p.Asp1116Asn
ENST00000317961.8:c.3346G>A ENSP00000322408.4:p.Asp1116Asn
ENST00000382806.6:c.3175G>A ENSP00000372256.2:p.Asp1059Asn
ENST00000415360.1:c.262G>A ENSP00000389433.1:p.Asp88Asn
ENST00000440077.5:c.3223G>A ENSP00000398543.1:p.Asp1075Asn
ENST00000469599.6:n.1944G>A
ENST00000492117.1:n.3238G>A
ENST00000541639.5:c.3439G>A ENSP00000444293.1:p.Asp1147Asn
NM_001146705.1:c.3439G>A NP_001140177.1:p.Asp1147Asn
NM_001146706.1:c.3175G>A NP_001140178.1:p.Asp1059Asn
NM_004653.4:c.3346G>A NP_004644.2:p.Asp1116Asn
XM_005262560.1:c.3211G>A XP_005262617.1:p.Asp1071Asn
XM_005262561.1:c.3115G>A XP_005262618.1:p.Asp1039Asn
XM_011531468.1:c.3268G>A XP_011529770.1:p.Asp1090Asn
XR_244571.2:n.3634G>A
XR_430568.2:n.3968G>A
XM_005262560.3:c.3211G>A XP_005262617.1:p.Asp1071Asn
XM_005262561.3:c.3115G>A XP_005262618.1:p.Asp1039Asn
XM_011531468.3:c.3268G>A XP_011529770.1:p.Asp1090Asn
XM_024452495.1:c.1336G>A XP_024308263.1:p.Asp446Asn
XM_024452496.1:c.1102G>A XP_024308264.1:p.Asp368Asn
XR_001756009.2:n.4084G>A
XR_001756010.2:n.4084G>A
XR_001756011.2:n.3949G>A
XR_001756012.2:n.4097G>A
XR_001756013.2:n.3415G>A
XR_002958832.1:n.3516G>A
XR_002958834.1:n.3740G>A
XR_002958835.1:n.3623G>A
XR_002958836.1:n.4306G>A
XR_002958837.1:n.4113G>A
XR_244571.4:n.3633G>A
XR_430568.4:n.3967G>A
NM_001146706.2:c.3175G>A NP_001140178.1:p.Asp1059Asn
NM_004653.5:c.3346G>A MANE Select NP_004644.2:p.Asp1116Asn
NM_001146705.2:c.3439G>A NP_001140177.1:p.Asp1147Asn