Canonical Allele Identifier: CA2766253090

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705784A>C , CM000686.2:g.19705784A>C	GRCh38
NC_000024.9:g.21867670A>C , CM000686.1:g.21867670A>C	GRCh37
NC_000024.8:g.20327058A>C	NCBI36
NG_032920.1:g.44156T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*211T>G MANE Select	ENSP00000322408.4:n.*211T>G
ENST00000317961.8:c.*211T>G	ENSP00000322408.4:n.*211T>G
ENST00000382806.6:c.*211T>G	ENSP00000372256.2:n.*211T>G
ENST00000469599.6:n.3582T>G
ENST00000492117.1:n.4876T>G
ENST00000541639.5:c.*211T>G	ENSP00000444293.1:n.*211T>G
NM_001146705.1:c.*211T>G	NP_001140177.1:n.*211T>G
NM_001146706.1:c.*211T>G	NP_001140178.1:n.*211T>G
NM_004653.4:c.*211T>G	NP_004644.2:n.*211T>G
XM_005262560.1:c.*211T>G	XP_005262617.1:n.*211T>G
XM_005262561.1:c.*211T>G	XP_005262618.1:n.*211T>G
XM_011531468.1:c.*211T>G	XP_011529770.1:n.*211T>G
XR_430568.2:n.5606T>G
XM_005262560.3:c.*211T>G	XP_005262617.1:n.*211T>G
XM_005262561.3:c.*211T>G	XP_005262618.1:n.*211T>G
XM_011531468.3:c.*211T>G	XP_011529770.1:n.*211T>G
XM_024452495.1:c.*211T>G	XP_024308263.1:n.*211T>G
XM_024452496.1:c.*211T>G	XP_024308264.1:n.*211T>G
XR_001756009.2:n.5569T>G
XR_001756010.2:n.5537T>G
XR_001756011.2:n.5434T>G
XR_001756012.2:n.5582T>G
XR_001756013.2:n.4900T>G
XR_002958832.1:n.5154T>G
XR_002958834.1:n.5225T>G
XR_002958835.1:n.5108T>G
XR_002958836.1:n.5759T>G
XR_002958837.1:n.5566T>G
XR_244571.4:n.5086T>G
XR_430568.4:n.5605T>G
NM_001146706.2:c.*211T>G	NP_001140178.1:n.*211T>G
NM_004653.5:c.*211T>G MANE Select	NP_004644.2:n.*211T>G
NM_001146705.2:c.*211T>G	NP_001140177.1:n.*211T>G