Canonical Allele Identifier: CA645292590
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs1402866583
gnomAD v2: Y-21869791-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707905C>T , CM000686.2:g.19707905C>T GRCh38
NC_000024.9:g.21869791C>T , CM000686.1:g.21869791C>T GRCh37
NC_000024.8:g.20329179C>T NCBI36
NG_032920.1:g.42035G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3399+29G>A MANE Select ENSP00000322408.4:n.3399+29G>A
ENST00000317961.8:c.3399+29G>A ENSP00000322408.4:n.3399+29G>A
ENST00000382806.6:c.3228+29G>A ENSP00000372256.2:n.3228+29G>A
ENST00000415360.1:c.315+29G>A ENSP00000389433.1:n.315+29G>A
ENST00000440077.5:c.3276+29G>A ENSP00000398543.1:n.3276+29G>A
ENST00000469599.6:n.1997+29G>A
ENST00000492117.1:n.3291+29G>A
ENST00000541639.5:c.3492+29G>A ENSP00000444293.1:n.3492+29G>A
NM_001146705.1:c.3492+29G>A NP_001140177.1:n.3492+29G>A
NM_001146706.1:c.3228+29G>A NP_001140178.1:n.3228+29G>A
NM_004653.4:c.3399+29G>A NP_004644.2:n.3399+29G>A
XM_005262560.1:c.3264+29G>A XP_005262617.1:n.3264+29G>A
XM_005262561.1:c.3168+29G>A XP_005262618.1:n.3168+29G>A
XM_011531468.1:c.3321+29G>A XP_011529770.1:n.3321+29G>A
XR_244571.2:n.3687+29G>A
XR_430568.2:n.4021+29G>A
XM_005262560.3:c.3264+29G>A XP_005262617.1:n.3264+29G>A
XM_005262561.3:c.3168+29G>A XP_005262618.1:n.3168+29G>A
XM_011531468.3:c.3321+29G>A XP_011529770.1:n.3321+29G>A
XM_024452495.1:c.1389+29G>A XP_024308263.1:n.1389+29G>A
XM_024452496.1:c.1155+29G>A XP_024308264.1:n.1155+29G>A
XR_001756009.2:n.4137+29G>A
XR_001756010.2:n.4137+29G>A
XR_001756011.2:n.4002+29G>A
XR_001756012.2:n.4150+29G>A
XR_001756013.2:n.3468+29G>A
XR_002958832.1:n.3569+29G>A
XR_002958834.1:n.3793+29G>A
XR_002958835.1:n.3676+29G>A
XR_002958836.1:n.4359+29G>A
XR_002958837.1:n.4166+29G>A
XR_244571.4:n.3686+29G>A
XR_430568.4:n.4020+29G>A
NM_001146706.2:c.3228+29G>A NP_001140178.1:n.3228+29G>A
NM_004653.5:c.3399+29G>A MANE Select NP_004644.2:n.3399+29G>A
NM_001146705.2:c.3492+29G>A NP_001140177.1:n.3492+29G>A