Canonical Allele Identifier: CA520516571
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs1289798956
gnomAD v2: Y-21869402-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707516T>C , CM000686.2:g.19707516T>C GRCh38
NC_000024.9:g.21869402T>C , CM000686.1:g.21869402T>C GRCh37
NC_000024.8:g.20328790T>C NCBI36
NG_032920.1:g.42424A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3630A>G MANE Select ENSP00000322408.4:p.Pro1210=
ENST00000317961.8:c.3630A>G ENSP00000322408.4:p.Pro1210=
ENST00000382806.6:c.3459A>G ENSP00000372256.2:p.Pro1153=
ENST00000415360.1:c.546A>G ENSP00000389433.1:p.Pro182=
ENST00000440077.5:c.3507A>G ENSP00000398543.1:p.Pro1169=
ENST00000469599.6:n.2228A>G
ENST00000492117.1:n.3522A>G
ENST00000541639.5:c.3723A>G ENSP00000444293.1:p.Pro1241=
NM_001146705.1:c.3723A>G NP_001140177.1:p.Pro1241=
NM_001146706.1:c.3459A>G NP_001140178.1:p.Pro1153=
NM_004653.4:c.3630A>G NP_004644.2:p.Pro1210=
XM_005262560.1:c.3495A>G XP_005262617.1:p.Pro1165=
XM_005262561.1:c.3399A>G XP_005262618.1:p.Pro1133=
XM_011531468.1:c.3552A>G XP_011529770.1:p.Pro1184=
XR_244571.2:n.3918A>G
XR_430568.2:n.4252A>G
XM_005262560.3:c.3495A>G XP_005262617.1:p.Pro1165=
XM_005262561.3:c.3399A>G XP_005262618.1:p.Pro1133=
XM_011531468.3:c.3552A>G XP_011529770.1:p.Pro1184=
XM_024452495.1:c.1620A>G XP_024308263.1:p.Pro540=
XM_024452496.1:c.1386A>G XP_024308264.1:p.Pro462=
XR_001756009.2:n.4368A>G
XR_001756010.2:n.4368A>G
XR_001756011.2:n.4233A>G
XR_001756012.2:n.4381A>G
XR_001756013.2:n.3699A>G
XR_002958832.1:n.3800A>G
XR_002958834.1:n.4024A>G
XR_002958835.1:n.3907A>G
XR_002958836.1:n.4590A>G
XR_002958837.1:n.4397A>G
XR_244571.4:n.3917A>G
XR_430568.4:n.4251A>G
NM_001146706.2:c.3459A>G NP_001140178.1:p.Pro1153=
NM_004653.5:c.3630A>G MANE Select NP_004644.2:p.Pro1210=
NM_001146705.2:c.3723A>G NP_001140177.1:p.Pro1241=