Canonical Allele Identifier: CA2766252878
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706757T>A , CM000686.2:g.19706757T>A GRCh38
NC_000024.9:g.21868643T>A , CM000686.1:g.21868643T>A GRCh37
NC_000024.8:g.20328031T>A NCBI36
NG_032920.1:g.43183A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.4069+37A>T MANE Select ENSP00000322408.4:n.4069+37A>T
ENST00000317961.8:c.4069+37A>T ENSP00000322408.4:n.4069+37A>T
ENST00000382806.6:c.3898+37A>T ENSP00000372256.2:n.3898+37A>T
ENST00000440077.5:c.3946+37A>T ENSP00000398543.1:n.3946+37A>T
ENST00000469599.6:n.2704A>T
ENST00000492117.1:n.3998A>T
ENST00000541639.5:c.4162+37A>T ENSP00000444293.1:n.4162+37A>T
NM_001146705.1:c.4162+37A>T NP_001140177.1:n.4162+37A>T
NM_001146706.1:c.3898+37A>T NP_001140178.1:n.3898+37A>T
NM_004653.4:c.4069+37A>T NP_004644.2:n.4069+37A>T
XM_005262560.1:c.3934+37A>T XP_005262617.1:n.3934+37A>T
XM_005262561.1:c.3838+37A>T XP_005262618.1:n.3838+37A>T
XM_011531468.1:c.3991+37A>T XP_011529770.1:n.3991+37A>T
XR_244571.2:n.4357+37A>T
XR_430568.2:n.4728A>T
XM_005262560.3:c.3934+37A>T XP_005262617.1:n.3934+37A>T
XM_005262561.3:c.3838+37A>T XP_005262618.1:n.3838+37A>T
XM_011531468.3:c.3991+37A>T XP_011529770.1:n.3991+37A>T
XM_024452495.1:c.2059+37A>T XP_024308263.1:n.2059+37A>T
XM_024452496.1:c.1825+37A>T XP_024308264.1:n.1825+37A>T
XR_001756009.2:n.4807+37A>T
XR_001756010.2:n.4807+37A>T
XR_001756011.2:n.4672+37A>T
XR_001756012.2:n.4820+37A>T
XR_001756013.2:n.4138+37A>T
XR_002958832.1:n.4276A>T
XR_002958834.1:n.4463+37A>T
XR_002958835.1:n.4346+37A>T
XR_002958836.1:n.5029+37A>T
XR_002958837.1:n.4836+37A>T
XR_244571.4:n.4356+37A>T
XR_430568.4:n.4727A>T
NM_001146706.2:c.3898+37A>T NP_001140178.1:n.3898+37A>T
NM_004653.5:c.4069+37A>T MANE Select NP_004644.2:n.4069+37A>T
NM_001146705.2:c.4162+37A>T NP_001140177.1:n.4162+37A>T