Canonical Allele Identifier: CA337440069
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032621
gnomAD v3: Y-19710852-T-C
gnomAD v4: Y-19710852-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19710852T>C , CM000686.2:g.19710852T>C GRCh38
NC_000024.9:g.21872738T>C , CM000686.1:g.21872738T>C GRCh37
NC_000024.8:g.20332126T>C NCBI36
NG_032920.1:g.39088A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.2487-380A>G MANE Select ENSP00000322408.4:n.2487-380A>G
ENST00000317961.8:c.2487-380A>G ENSP00000322408.4:n.2487-380A>G
ENST00000382806.6:c.2316-380A>G ENSP00000372256.2:n.2316-380A>G
ENST00000440077.5:c.2364-380A>G ENSP00000398543.1:n.2364-380A>G
ENST00000469599.6:n.634-380A>G
ENST00000492117.1:n.2379-380A>G
ENST00000541639.5:c.2580-380A>G ENSP00000444293.1:n.2580-380A>G
NM_001146705.1:c.2580-380A>G NP_001140177.1:n.2580-380A>G
NM_001146706.1:c.2316-380A>G NP_001140178.1:n.2316-380A>G
NM_004653.4:c.2487-380A>G NP_004644.2:n.2487-380A>G
XM_005262560.1:c.2352-380A>G XP_005262617.1:n.2352-380A>G
XM_005262561.1:c.2487-380A>G XP_005262618.1:n.2487-380A>G
XM_005262562.2:c.2487-380A>G XP_005262619.1:n.2487-380A>G
XM_011531468.1:c.2487-380A>G XP_011529770.1:n.2487-380A>G
XR_244571.2:n.2775-380A>G
XR_430568.2:n.2658-380A>G
XR_938609.1:n.2627-380A>G
XR_938610.1:n.2627-380A>G
XM_005262560.3:c.2352-380A>G XP_005262617.1:n.2352-380A>G
XM_005262561.3:c.2487-380A>G XP_005262618.1:n.2487-380A>G
XM_011531468.3:c.2487-380A>G XP_011529770.1:n.2487-380A>G
XM_024452495.1:c.477-380A>G XP_024308263.1:n.477-380A>G
XM_024452496.1:c.243-380A>G XP_024308264.1:n.243-380A>G
XR_001756009.2:n.2774-380A>G
XR_001756010.2:n.2774-380A>G
XR_001756011.2:n.2639-380A>G
XR_001756012.2:n.2787-380A>G
XR_001756013.2:n.2787-380A>G
XR_002958832.1:n.2657-380A>G
XR_002958833.1:n.2787-380A>G
XR_002958834.1:n.2881-380A>G
XR_002958835.1:n.2764-380A>G
XR_002958836.1:n.2881-380A>G
XR_002958837.1:n.2881-380A>G
XR_244571.4:n.2774-380A>G
XR_430568.4:n.2657-380A>G
NM_001146706.2:c.2316-380A>G NP_001140178.1:n.2316-380A>G
NM_004653.5:c.2487-380A>G MANE Select NP_004644.2:n.2487-380A>G
NM_001146705.2:c.2580-380A>G NP_001140177.1:n.2580-380A>G