Canonical Allele Identifier: CA414843589
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707563A>C , CM000686.2:g.19707563A>C GRCh38
NC_000024.9:g.21869449A>C , CM000686.1:g.21869449A>C GRCh37
NC_000024.8:g.20328837A>C NCBI36
NG_032920.1:g.42377T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3583T>G MANE Select ENSP00000322408.4:p.Trp1195Gly
ENST00000317961.8:c.3583T>G ENSP00000322408.4:p.Trp1195Gly
ENST00000382806.6:c.3412T>G ENSP00000372256.2:p.Trp1138Gly
ENST00000415360.1:c.499T>G ENSP00000389433.1:p.Trp167Gly
ENST00000440077.5:c.3460T>G ENSP00000398543.1:p.Trp1154Gly
ENST00000469599.6:n.2181T>G
ENST00000492117.1:n.3475T>G
ENST00000541639.5:c.3676T>G ENSP00000444293.1:p.Trp1226Gly
NM_001146705.1:c.3676T>G NP_001140177.1:p.Trp1226Gly
NM_001146706.1:c.3412T>G NP_001140178.1:p.Trp1138Gly
NM_004653.4:c.3583T>G NP_004644.2:p.Trp1195Gly
XM_005262560.1:c.3448T>G XP_005262617.1:p.Trp1150Gly
XM_005262561.1:c.3352T>G XP_005262618.1:p.Trp1118Gly
XM_011531468.1:c.3505T>G XP_011529770.1:p.Trp1169Gly
XR_244571.2:n.3871T>G
XR_430568.2:n.4205T>G
XM_005262560.3:c.3448T>G XP_005262617.1:p.Trp1150Gly
XM_005262561.3:c.3352T>G XP_005262618.1:p.Trp1118Gly
XM_011531468.3:c.3505T>G XP_011529770.1:p.Trp1169Gly
XM_024452495.1:c.1573T>G XP_024308263.1:p.Trp525Gly
XM_024452496.1:c.1339T>G XP_024308264.1:p.Trp447Gly
XR_001756009.2:n.4321T>G
XR_001756010.2:n.4321T>G
XR_001756011.2:n.4186T>G
XR_001756012.2:n.4334T>G
XR_001756013.2:n.3652T>G
XR_002958832.1:n.3753T>G
XR_002958834.1:n.3977T>G
XR_002958835.1:n.3860T>G
XR_002958836.1:n.4543T>G
XR_002958837.1:n.4350T>G
XR_244571.4:n.3870T>G
XR_430568.4:n.4204T>G
NM_001146706.2:c.3412T>G NP_001140178.1:p.Trp1138Gly
NM_004653.5:c.3583T>G MANE Select NP_004644.2:p.Trp1195Gly
NM_001146705.2:c.3676T>G NP_001140177.1:p.Trp1226Gly