Canonical Allele Identifier: CA414840296
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706142A>C , CM000686.2:g.19706142A>C GRCh38
NC_000024.9:g.21868028A>C , CM000686.1:g.21868028A>C GRCh37
NC_000024.8:g.20327416A>C NCBI36
NG_032920.1:g.43798T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4473T>G MANE Select ENSP00000322408.4:p.Asn1491Lys
ENST00000317961.8:c.4473T>G ENSP00000322408.4:p.Asn1491Lys
ENST00000382806.6:c.4302T>G ENSP00000372256.2:p.Asn1434Lys
ENST00000440077.5:c.4350T>G ENSP00000398543.1:p.Asn1450Lys
ENST00000469599.6:n.3224T>G
ENST00000492117.1:n.4518T>G
ENST00000541639.5:c.4566T>G ENSP00000444293.1:p.Asn1522Lys
NM_001146705.1:c.4566T>G NP_001140177.1:p.Asn1522Lys
NM_001146706.1:c.4302T>G NP_001140178.1:p.Asn1434Lys
NM_004653.4:c.4473T>G NP_004644.2:p.Asn1491Lys
XM_005262560.1:c.4338T>G XP_005262617.1:p.Asn1446Lys
XM_005262561.1:c.4242T>G XP_005262618.1:p.Asn1414Lys
XM_011531468.1:c.4395T>G XP_011529770.1:p.Asn1465Lys
XR_430568.2:n.5248T>G
XM_005262560.3:c.4338T>G XP_005262617.1:p.Asn1446Lys
XM_005262561.3:c.4242T>G XP_005262618.1:p.Asn1414Lys
XM_011531468.3:c.4395T>G XP_011529770.1:p.Asn1465Lys
XM_024452495.1:c.2463T>G XP_024308263.1:p.Asn821Lys
XM_024452496.1:c.2229T>G XP_024308264.1:p.Asn743Lys
XR_001756009.2:n.5211T>G
XR_001756010.2:n.5179T>G
XR_001756011.2:n.5076T>G
XR_001756012.2:n.5224T>G
XR_001756013.2:n.4542T>G
XR_002958832.1:n.4796T>G
XR_002958834.1:n.4867T>G
XR_002958835.1:n.4750T>G
XR_002958836.1:n.5401T>G
XR_002958837.1:n.5208T>G
XR_244571.4:n.4728T>G
XR_430568.4:n.5247T>G
NM_001146706.2:c.4302T>G NP_001140178.1:p.Asn1434Lys
NM_004653.5:c.4473T>G MANE Select NP_004644.2:p.Asn1491Lys
NM_001146705.2:c.4566T>G NP_001140177.1:p.Asn1522Lys