Canonical Allele Identifier: CA414841845
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706792A>G , CM000686.2:g.19706792A>G GRCh38
NC_000024.9:g.21868678A>G , CM000686.1:g.21868678A>G GRCh37
NC_000024.8:g.20328066A>G NCBI36
NG_032920.1:g.43148T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4069+2T>C MANE Select ENSP00000322408.4:n.4069+2T>C
ENST00000317961.8:c.4069+2T>C ENSP00000322408.4:n.4069+2T>C
ENST00000382806.6:c.3898+2T>C ENSP00000372256.2:n.3898+2T>C
ENST00000440077.5:c.3946+2T>C ENSP00000398543.1:n.3946+2T>C
ENST00000469599.6:n.2669T>C
ENST00000492117.1:n.3963T>C
ENST00000541639.5:c.4162+2T>C ENSP00000444293.1:n.4162+2T>C
NM_001146705.1:c.4162+2T>C NP_001140177.1:n.4162+2T>C
NM_001146706.1:c.3898+2T>C NP_001140178.1:n.3898+2T>C
NM_004653.4:c.4069+2T>C NP_004644.2:n.4069+2T>C
XM_005262560.1:c.3934+2T>C XP_005262617.1:n.3934+2T>C
XM_005262561.1:c.3838+2T>C XP_005262618.1:n.3838+2T>C
XM_011531468.1:c.3991+2T>C XP_011529770.1:n.3991+2T>C
XR_244571.2:n.4357+2T>C
XR_430568.2:n.4693T>C
XM_005262560.3:c.3934+2T>C XP_005262617.1:n.3934+2T>C
XM_005262561.3:c.3838+2T>C XP_005262618.1:n.3838+2T>C
XM_011531468.3:c.3991+2T>C XP_011529770.1:n.3991+2T>C
XM_024452495.1:c.2059+2T>C XP_024308263.1:n.2059+2T>C
XM_024452496.1:c.1825+2T>C XP_024308264.1:n.1825+2T>C
XR_001756009.2:n.4807+2T>C
XR_001756010.2:n.4807+2T>C
XR_001756011.2:n.4672+2T>C
XR_001756012.2:n.4820+2T>C
XR_001756013.2:n.4138+2T>C
XR_002958832.1:n.4241T>C
XR_002958834.1:n.4463+2T>C
XR_002958835.1:n.4346+2T>C
XR_002958836.1:n.5029+2T>C
XR_002958837.1:n.4836+2T>C
XR_244571.4:n.4356+2T>C
XR_430568.4:n.4692T>C
NM_001146706.2:c.3898+2T>C NP_001140178.1:n.3898+2T>C
NM_004653.5:c.4069+2T>C MANE Select NP_004644.2:n.4069+2T>C
NM_001146705.2:c.4162+2T>C NP_001140177.1:n.4162+2T>C