Canonical Allele Identifier: CA414843426
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707521A>C , CM000686.2:g.19707521A>C GRCh38
NC_000024.9:g.21869407A>C , CM000686.1:g.21869407A>C GRCh37
NC_000024.8:g.20328795A>C NCBI36
NG_032920.1:g.42419T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3625T>G MANE Select ENSP00000322408.4:p.Ser1209Ala
ENST00000317961.8:c.3625T>G ENSP00000322408.4:p.Ser1209Ala
ENST00000382806.6:c.3454T>G ENSP00000372256.2:p.Ser1152Ala
ENST00000415360.1:c.541T>G ENSP00000389433.1:p.Ser181Ala
ENST00000440077.5:c.3502T>G ENSP00000398543.1:p.Ser1168Ala
ENST00000469599.6:n.2223T>G
ENST00000492117.1:n.3517T>G
ENST00000541639.5:c.3718T>G ENSP00000444293.1:p.Ser1240Ala
NM_001146705.1:c.3718T>G NP_001140177.1:p.Ser1240Ala
NM_001146706.1:c.3454T>G NP_001140178.1:p.Ser1152Ala
NM_004653.4:c.3625T>G NP_004644.2:p.Ser1209Ala
XM_005262560.1:c.3490T>G XP_005262617.1:p.Ser1164Ala
XM_005262561.1:c.3394T>G XP_005262618.1:p.Ser1132Ala
XM_011531468.1:c.3547T>G XP_011529770.1:p.Ser1183Ala
XR_244571.2:n.3913T>G
XR_430568.2:n.4247T>G
XM_005262560.3:c.3490T>G XP_005262617.1:p.Ser1164Ala
XM_005262561.3:c.3394T>G XP_005262618.1:p.Ser1132Ala
XM_011531468.3:c.3547T>G XP_011529770.1:p.Ser1183Ala
XM_024452495.1:c.1615T>G XP_024308263.1:p.Ser539Ala
XM_024452496.1:c.1381T>G XP_024308264.1:p.Ser461Ala
XR_001756009.2:n.4363T>G
XR_001756010.2:n.4363T>G
XR_001756011.2:n.4228T>G
XR_001756012.2:n.4376T>G
XR_001756013.2:n.3694T>G
XR_002958832.1:n.3795T>G
XR_002958834.1:n.4019T>G
XR_002958835.1:n.3902T>G
XR_002958836.1:n.4585T>G
XR_002958837.1:n.4392T>G
XR_244571.4:n.3912T>G
XR_430568.4:n.4246T>G
NM_001146706.2:c.3454T>G NP_001140178.1:p.Ser1152Ala
NM_004653.5:c.3625T>G MANE Select NP_004644.2:p.Ser1209Ala
NM_001146705.2:c.3718T>G NP_001140177.1:p.Ser1240Ala