Canonical Allele Identifier: CA414843232
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707466G>T , CM000686.2:g.19707466G>T GRCh38
NC_000024.9:g.21869352G>T , CM000686.1:g.21869352G>T GRCh37
NC_000024.8:g.20328740G>T NCBI36
NG_032920.1:g.42474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3680C>A MANE Select ENSP00000322408.4:p.Thr1227Lys
ENST00000317961.8:c.3680C>A ENSP00000322408.4:p.Thr1227Lys
ENST00000382806.6:c.3509C>A ENSP00000372256.2:p.Thr1170Lys
ENST00000415360.1:c.596C>A ENSP00000389433.1:p.Thr199Lys
ENST00000440077.5:c.3557C>A ENSP00000398543.1:p.Thr1186Lys
ENST00000469599.6:n.2278C>A
ENST00000492117.1:n.3572C>A
ENST00000541639.5:c.3773C>A ENSP00000444293.1:p.Thr1258Lys
NM_001146705.1:c.3773C>A NP_001140177.1:p.Thr1258Lys
NM_001146706.1:c.3509C>A NP_001140178.1:p.Thr1170Lys
NM_004653.4:c.3680C>A NP_004644.2:p.Thr1227Lys
XM_005262560.1:c.3545C>A XP_005262617.1:p.Thr1182Lys
XM_005262561.1:c.3449C>A XP_005262618.1:p.Thr1150Lys
XM_011531468.1:c.3602C>A XP_011529770.1:p.Thr1201Lys
XR_244571.2:n.3968C>A
XR_430568.2:n.4302C>A
XM_005262560.3:c.3545C>A XP_005262617.1:p.Thr1182Lys
XM_005262561.3:c.3449C>A XP_005262618.1:p.Thr1150Lys
XM_011531468.3:c.3602C>A XP_011529770.1:p.Thr1201Lys
XM_024452495.1:c.1670C>A XP_024308263.1:p.Thr557Lys
XM_024452496.1:c.1436C>A XP_024308264.1:p.Thr479Lys
XR_001756009.2:n.4418C>A
XR_001756010.2:n.4418C>A
XR_001756011.2:n.4283C>A
XR_001756012.2:n.4431C>A
XR_001756013.2:n.3749C>A
XR_002958832.1:n.3850C>A
XR_002958834.1:n.4074C>A
XR_002958835.1:n.3957C>A
XR_002958836.1:n.4640C>A
XR_002958837.1:n.4447C>A
XR_244571.4:n.3967C>A
XR_430568.4:n.4301C>A
NM_001146706.2:c.3509C>A NP_001140178.1:p.Thr1170Lys
NM_004653.5:c.3680C>A MANE Select NP_004644.2:p.Thr1227Lys
NM_001146705.2:c.3773C>A NP_001140177.1:p.Thr1258Lys