Canonical Allele Identifier: CA414843958
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707664G>T , CM000686.2:g.19707664G>T GRCh38
NC_000024.9:g.21869550G>T , CM000686.1:g.21869550G>T GRCh37
NC_000024.8:g.20328938G>T NCBI36
NG_032920.1:g.42276C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3482C>A MANE Select ENSP00000322408.4:p.Pro1161Gln
ENST00000317961.8:c.3482C>A ENSP00000322408.4:p.Pro1161Gln
ENST00000382806.6:c.3311C>A ENSP00000372256.2:p.Pro1104Gln
ENST00000415360.1:c.398C>A ENSP00000389433.1:p.Pro133Gln
ENST00000440077.5:c.3359C>A ENSP00000398543.1:p.Pro1120Gln
ENST00000469599.6:n.2080C>A
ENST00000492117.1:n.3374C>A
ENST00000541639.5:c.3575C>A ENSP00000444293.1:p.Pro1192Gln
NM_001146705.1:c.3575C>A NP_001140177.1:p.Pro1192Gln
NM_001146706.1:c.3311C>A NP_001140178.1:p.Pro1104Gln
NM_004653.4:c.3482C>A NP_004644.2:p.Pro1161Gln
XM_005262560.1:c.3347C>A XP_005262617.1:p.Pro1116Gln
XM_005262561.1:c.3251C>A XP_005262618.1:p.Pro1084Gln
XM_011531468.1:c.3404C>A XP_011529770.1:p.Pro1135Gln
XR_244571.2:n.3770C>A
XR_430568.2:n.4104C>A
XM_005262560.3:c.3347C>A XP_005262617.1:p.Pro1116Gln
XM_005262561.3:c.3251C>A XP_005262618.1:p.Pro1084Gln
XM_011531468.3:c.3404C>A XP_011529770.1:p.Pro1135Gln
XM_024452495.1:c.1472C>A XP_024308263.1:p.Pro491Gln
XM_024452496.1:c.1238C>A XP_024308264.1:p.Pro413Gln
XR_001756009.2:n.4220C>A
XR_001756010.2:n.4220C>A
XR_001756011.2:n.4085C>A
XR_001756012.2:n.4233C>A
XR_001756013.2:n.3551C>A
XR_002958832.1:n.3652C>A
XR_002958834.1:n.3876C>A
XR_002958835.1:n.3759C>A
XR_002958836.1:n.4442C>A
XR_002958837.1:n.4249C>A
XR_244571.4:n.3769C>A
XR_430568.4:n.4103C>A
NM_001146706.2:c.3311C>A NP_001140178.1:p.Pro1104Gln
NM_004653.5:c.3482C>A MANE Select NP_004644.2:p.Pro1161Gln
NM_001146705.2:c.3575C>A NP_001140177.1:p.Pro1192Gln