Canonical Allele Identifier: CA10574768
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs72625375
gnomAD v2: Y-21869928-T-C
gnomAD v3: Y-19708042-T-C
gnomAD v4: Y-19708042-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708042T>C , CM000686.2:g.19708042T>C GRCh38
NC_000024.9:g.21869928T>C , CM000686.1:g.21869928T>C GRCh37
NC_000024.8:g.20329316T>C NCBI36
NG_032920.1:g.41898A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3291A>G MANE Select ENSP00000322408.4:p.Ser1097=
ENST00000317961.8:c.3291A>G ENSP00000322408.4:p.Ser1097=
ENST00000382806.6:c.3120A>G ENSP00000372256.2:p.Ser1040=
ENST00000415360.1:c.207A>G ENSP00000389433.1:p.Ser69=
ENST00000440077.5:c.3168A>G ENSP00000398543.1:p.Ser1056=
ENST00000469599.6:n.1889A>G
ENST00000492117.1:n.3183A>G
ENST00000541639.5:c.3384A>G ENSP00000444293.1:p.Ser1128=
NM_001146705.1:c.3384A>G NP_001140177.1:p.Ser1128=
NM_001146706.1:c.3120A>G NP_001140178.1:p.Ser1040=
NM_004653.4:c.3291A>G NP_004644.2:p.Ser1097=
XM_005262560.1:c.3156A>G XP_005262617.1:p.Ser1052=
XM_005262561.1:c.3060A>G XP_005262618.1:p.Ser1020=
XM_011531468.1:c.3213A>G XP_011529770.1:p.Ser1071=
XR_244571.2:n.3579A>G
XR_430568.2:n.3913A>G
XM_005262560.3:c.3156A>G XP_005262617.1:p.Ser1052=
XM_005262561.3:c.3060A>G XP_005262618.1:p.Ser1020=
XM_011531468.3:c.3213A>G XP_011529770.1:p.Ser1071=
XM_024452495.1:c.1281A>G XP_024308263.1:p.Ser427=
XM_024452496.1:c.1047A>G XP_024308264.1:p.Ser349=
XR_001756009.2:n.4029A>G
XR_001756010.2:n.4029A>G
XR_001756011.2:n.3894A>G
XR_001756012.2:n.4042A>G
XR_001756013.2:n.3360A>G
XR_002958832.1:n.3461A>G
XR_002958834.1:n.3685A>G
XR_002958835.1:n.3568A>G
XR_002958836.1:n.4251A>G
XR_002958837.1:n.4058A>G
XR_244571.4:n.3578A>G
XR_430568.4:n.3912A>G
NM_001146706.2:c.3120A>G NP_001140178.1:p.Ser1040=
NM_004653.5:c.3291A>G MANE Select NP_004644.2:p.Ser1097=
NM_001146705.2:c.3384A>G NP_001140177.1:p.Ser1128=