Canonical Allele Identifier: CA414840079
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706087T>C , CM000686.2:g.19706087T>C GRCh38
NC_000024.9:g.21867973T>C , CM000686.1:g.21867973T>C GRCh37
NC_000024.8:g.20327361T>C NCBI36
NG_032920.1:g.43853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4528A>G MANE Select ENSP00000322408.4:p.Ser1510Gly
ENST00000317961.8:c.4528A>G ENSP00000322408.4:p.Ser1510Gly
ENST00000382806.6:c.4357A>G ENSP00000372256.2:p.Ser1453Gly
ENST00000440077.5:c.4405A>G ENSP00000398543.1:p.Ser1469Gly
ENST00000469599.6:n.3279A>G
ENST00000492117.1:n.4573A>G
ENST00000541639.5:c.4621A>G ENSP00000444293.1:p.Ser1541Gly
NM_001146705.1:c.4621A>G NP_001140177.1:p.Ser1541Gly
NM_001146706.1:c.4357A>G NP_001140178.1:p.Ser1453Gly
NM_004653.4:c.4528A>G NP_004644.2:p.Ser1510Gly
XM_005262560.1:c.4393A>G XP_005262617.1:p.Ser1465Gly
XM_005262561.1:c.4297A>G XP_005262618.1:p.Ser1433Gly
XM_011531468.1:c.4450A>G XP_011529770.1:p.Ser1484Gly
XR_430568.2:n.5303A>G
XM_005262560.3:c.4393A>G XP_005262617.1:p.Ser1465Gly
XM_005262561.3:c.4297A>G XP_005262618.1:p.Ser1433Gly
XM_011531468.3:c.4450A>G XP_011529770.1:p.Ser1484Gly
XM_024452495.1:c.2518A>G XP_024308263.1:p.Ser840Gly
XM_024452496.1:c.2284A>G XP_024308264.1:p.Ser762Gly
XR_001756009.2:n.5266A>G
XR_001756010.2:n.5234A>G
XR_001756011.2:n.5131A>G
XR_001756012.2:n.5279A>G
XR_001756013.2:n.4597A>G
XR_002958832.1:n.4851A>G
XR_002958834.1:n.4922A>G
XR_002958835.1:n.4805A>G
XR_002958836.1:n.5456A>G
XR_002958837.1:n.5263A>G
XR_244571.4:n.4783A>G
XR_430568.4:n.5302A>G
NM_001146706.2:c.4357A>G NP_001140178.1:p.Ser1453Gly
NM_004653.5:c.4528A>G MANE Select NP_004644.2:p.Ser1510Gly
NM_001146705.2:c.4621A>G NP_001140177.1:p.Ser1541Gly