Canonical Allele Identifier: CA414843388
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707511G>T , CM000686.2:g.19707511G>T GRCh38
NC_000024.9:g.21869397G>T , CM000686.1:g.21869397G>T GRCh37
NC_000024.8:g.20328785G>T NCBI36
NG_032920.1:g.42429C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3635C>A MANE Select ENSP00000322408.4:p.Pro1212His
ENST00000317961.8:c.3635C>A ENSP00000322408.4:p.Pro1212His
ENST00000382806.6:c.3464C>A ENSP00000372256.2:p.Pro1155His
ENST00000415360.1:c.551C>A ENSP00000389433.1:p.Pro184His
ENST00000440077.5:c.3512C>A ENSP00000398543.1:p.Pro1171His
ENST00000469599.6:n.2233C>A
ENST00000492117.1:n.3527C>A
ENST00000541639.5:c.3728C>A ENSP00000444293.1:p.Pro1243His
NM_001146705.1:c.3728C>A NP_001140177.1:p.Pro1243His
NM_001146706.1:c.3464C>A NP_001140178.1:p.Pro1155His
NM_004653.4:c.3635C>A NP_004644.2:p.Pro1212His
XM_005262560.1:c.3500C>A XP_005262617.1:p.Pro1167His
XM_005262561.1:c.3404C>A XP_005262618.1:p.Pro1135His
XM_011531468.1:c.3557C>A XP_011529770.1:p.Pro1186His
XR_244571.2:n.3923C>A
XR_430568.2:n.4257C>A
XM_005262560.3:c.3500C>A XP_005262617.1:p.Pro1167His
XM_005262561.3:c.3404C>A XP_005262618.1:p.Pro1135His
XM_011531468.3:c.3557C>A XP_011529770.1:p.Pro1186His
XM_024452495.1:c.1625C>A XP_024308263.1:p.Pro542His
XM_024452496.1:c.1391C>A XP_024308264.1:p.Pro464His
XR_001756009.2:n.4373C>A
XR_001756010.2:n.4373C>A
XR_001756011.2:n.4238C>A
XR_001756012.2:n.4386C>A
XR_001756013.2:n.3704C>A
XR_002958832.1:n.3805C>A
XR_002958834.1:n.4029C>A
XR_002958835.1:n.3912C>A
XR_002958836.1:n.4595C>A
XR_002958837.1:n.4402C>A
XR_244571.4:n.3922C>A
XR_430568.4:n.4256C>A
NM_001146706.2:c.3464C>A NP_001140178.1:p.Pro1155His
NM_004653.5:c.3635C>A MANE Select NP_004644.2:p.Pro1212His
NM_001146705.2:c.3728C>A NP_001140177.1:p.Pro1243His