Canonical Allele Identifier: CA2766253145
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705986G>C , CM000686.2:g.19705986G>C GRCh38
NC_000024.9:g.21867872G>C , CM000686.1:g.21867872G>C GRCh37
NC_000024.8:g.20327260G>C NCBI36
NG_032920.1:g.43954C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*9C>G MANE Select ENSP00000322408.4:n.*9C>G
ENST00000317961.8:c.*9C>G ENSP00000322408.4:n.*9C>G
ENST00000382806.6:c.*9C>G ENSP00000372256.2:n.*9C>G
ENST00000469599.6:n.3380C>G
ENST00000492117.1:n.4674C>G
ENST00000541639.5:c.*9C>G ENSP00000444293.1:n.*9C>G
NM_001146705.1:c.*9C>G NP_001140177.1:n.*9C>G
NM_001146706.1:c.*9C>G NP_001140178.1:n.*9C>G
NM_004653.4:c.*9C>G NP_004644.2:n.*9C>G
XM_005262560.1:c.*9C>G XP_005262617.1:n.*9C>G
XM_005262561.1:c.*9C>G XP_005262618.1:n.*9C>G
XM_011531468.1:c.*9C>G XP_011529770.1:n.*9C>G
XR_430568.2:n.5404C>G
XM_005262560.3:c.*9C>G XP_005262617.1:n.*9C>G
XM_005262561.3:c.*9C>G XP_005262618.1:n.*9C>G
XM_011531468.3:c.*9C>G XP_011529770.1:n.*9C>G
XM_024452495.1:c.*9C>G XP_024308263.1:n.*9C>G
XM_024452496.1:c.*9C>G XP_024308264.1:n.*9C>G
XR_001756009.2:n.5367C>G
XR_001756010.2:n.5335C>G
XR_001756011.2:n.5232C>G
XR_001756012.2:n.5380C>G
XR_001756013.2:n.4698C>G
XR_002958832.1:n.4952C>G
XR_002958834.1:n.5023C>G
XR_002958835.1:n.4906C>G
XR_002958836.1:n.5557C>G
XR_002958837.1:n.5364C>G
XR_244571.4:n.4884C>G
XR_430568.4:n.5403C>G
NM_001146706.2:c.*9C>G NP_001140178.1:n.*9C>G
NM_004653.5:c.*9C>G MANE Select NP_004644.2:n.*9C>G
NM_001146705.2:c.*9C>G NP_001140177.1:n.*9C>G