Canonical Allele Identifier: CA10574709
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032632

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706786T>C , CM000686.2:g.19706786T>C GRCh38
NC_000024.9:g.21868672T>C , CM000686.1:g.21868672T>C GRCh37
NC_000024.8:g.20328060T>C NCBI36
NG_032920.1:g.43154A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.4069+8A>G MANE Select ENSP00000322408.4:p.=
ENST00000317961.8:c.4069+8A>G ENSP00000322408.4:p.=
ENST00000382806.6:c.3898+8A>G ENSP00000372256.2:p.=
ENST00000440077.5:c.3946+8A>G ENSP00000398543.1:p.=
ENST00000469599.6:n.2675A>G
ENST00000492117.1:n.3969A>G
ENST00000541639.5:c.4162+8A>G ENSP00000444293.1:p.=
NM_001146705.1:c.4162+8A>G NP_001140177.1:p.=
NM_001146706.1:c.3898+8A>G NP_001140178.1:p.=
NM_004653.4:c.4069+8A>G NP_004644.2:p.=
XM_005262560.1:c.3934+8A>G XP_005262617.1:p.=
XM_005262561.1:c.3838+8A>G XP_005262618.1:p.=
XM_011531468.1:c.3991+8A>G XP_011529770.1:p.=
XR_244571.2:n.4357+8A>G
XR_430568.2:n.4699A>G
XM_005262560.3:c.3934+8A>G XP_005262617.1:p.=
XM_005262561.3:c.3838+8A>G XP_005262618.1:p.=
XM_011531468.3:c.3991+8A>G XP_011529770.1:p.=
XM_024452495.1:c.2059+8A>G XP_024308263.1:p.=
XM_024452496.1:c.1825+8A>G XP_024308264.1:p.=
XR_001756009.2:n.4807+8A>G
XR_001756010.2:n.4807+8A>G
XR_001756011.2:n.4672+8A>G
XR_001756012.2:n.4820+8A>G
XR_001756013.2:n.4138+8A>G
XR_002958832.1:n.4247A>G
XR_002958834.1:n.4463+8A>G
XR_002958835.1:n.4346+8A>G
XR_002958836.1:n.5029+8A>G
XR_002958837.1:n.4836+8A>G
XR_244571.4:n.4356+8A>G
XR_430568.4:n.4698A>G
NM_001146706.2:c.3898+8A>G NP_001140178.1:p.=
NM_004653.5:c.4069+8A>G MANE Select NP_004644.2:p.=
NM_001146705.2:c.4162+8A>G NP_001140177.1:p.=