Canonical Allele Identifier: CA414844034
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707685G>C , CM000686.2:g.19707685G>C GRCh38
NC_000024.9:g.21869571G>C , CM000686.1:g.21869571G>C GRCh37
NC_000024.8:g.20328959G>C NCBI36
NG_032920.1:g.42255C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3461C>G MANE Select ENSP00000322408.4:p.Thr1154Ser
ENST00000317961.8:c.3461C>G ENSP00000322408.4:p.Thr1154Ser
ENST00000382806.6:c.3290C>G ENSP00000372256.2:p.Thr1097Ser
ENST00000415360.1:c.377C>G ENSP00000389433.1:p.Thr126Ser
ENST00000440077.5:c.3338C>G ENSP00000398543.1:p.Thr1113Ser
ENST00000469599.6:n.2059C>G
ENST00000492117.1:n.3353C>G
ENST00000541639.5:c.3554C>G ENSP00000444293.1:p.Thr1185Ser
NM_001146705.1:c.3554C>G NP_001140177.1:p.Thr1185Ser
NM_001146706.1:c.3290C>G NP_001140178.1:p.Thr1097Ser
NM_004653.4:c.3461C>G NP_004644.2:p.Thr1154Ser
XM_005262560.1:c.3326C>G XP_005262617.1:p.Thr1109Ser
XM_005262561.1:c.3230C>G XP_005262618.1:p.Thr1077Ser
XM_011531468.1:c.3383C>G XP_011529770.1:p.Thr1128Ser
XR_244571.2:n.3749C>G
XR_430568.2:n.4083C>G
XM_005262560.3:c.3326C>G XP_005262617.1:p.Thr1109Ser
XM_005262561.3:c.3230C>G XP_005262618.1:p.Thr1077Ser
XM_011531468.3:c.3383C>G XP_011529770.1:p.Thr1128Ser
XM_024452495.1:c.1451C>G XP_024308263.1:p.Thr484Ser
XM_024452496.1:c.1217C>G XP_024308264.1:p.Thr406Ser
XR_001756009.2:n.4199C>G
XR_001756010.2:n.4199C>G
XR_001756011.2:n.4064C>G
XR_001756012.2:n.4212C>G
XR_001756013.2:n.3530C>G
XR_002958832.1:n.3631C>G
XR_002958834.1:n.3855C>G
XR_002958835.1:n.3738C>G
XR_002958836.1:n.4421C>G
XR_002958837.1:n.4228C>G
XR_244571.4:n.3748C>G
XR_430568.4:n.4082C>G
NM_001146706.2:c.3290C>G NP_001140178.1:p.Thr1097Ser
NM_004653.5:c.3461C>G MANE Select NP_004644.2:p.Thr1154Ser
NM_001146705.2:c.3554C>G NP_001140177.1:p.Thr1185Ser