Canonical Allele Identifier: CA414843294
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707480C>T , CM000686.2:g.19707480C>T GRCh38
NC_000024.9:g.21869366C>T , CM000686.1:g.21869366C>T GRCh37
NC_000024.8:g.20328754C>T NCBI36
NG_032920.1:g.42460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3666G>A MANE Select ENSP00000322408.4:p.Trp1222Ter
ENST00000317961.8:c.3666G>A ENSP00000322408.4:p.Trp1222Ter
ENST00000382806.6:c.3495G>A ENSP00000372256.2:p.Trp1165Ter
ENST00000415360.1:c.582G>A ENSP00000389433.1:p.Trp194Ter
ENST00000440077.5:c.3543G>A ENSP00000398543.1:p.Trp1181Ter
ENST00000469599.6:n.2264G>A
ENST00000492117.1:n.3558G>A
ENST00000541639.5:c.3759G>A ENSP00000444293.1:p.Trp1253Ter
NM_001146705.1:c.3759G>A NP_001140177.1:p.Trp1253Ter
NM_001146706.1:c.3495G>A NP_001140178.1:p.Trp1165Ter
NM_004653.4:c.3666G>A NP_004644.2:p.Trp1222Ter
XM_005262560.1:c.3531G>A XP_005262617.1:p.Trp1177Ter
XM_005262561.1:c.3435G>A XP_005262618.1:p.Trp1145Ter
XM_011531468.1:c.3588G>A XP_011529770.1:p.Trp1196Ter
XR_244571.2:n.3954G>A
XR_430568.2:n.4288G>A
XM_005262560.3:c.3531G>A XP_005262617.1:p.Trp1177Ter
XM_005262561.3:c.3435G>A XP_005262618.1:p.Trp1145Ter
XM_011531468.3:c.3588G>A XP_011529770.1:p.Trp1196Ter
XM_024452495.1:c.1656G>A XP_024308263.1:p.Trp552Ter
XM_024452496.1:c.1422G>A XP_024308264.1:p.Trp474Ter
XR_001756009.2:n.4404G>A
XR_001756010.2:n.4404G>A
XR_001756011.2:n.4269G>A
XR_001756012.2:n.4417G>A
XR_001756013.2:n.3735G>A
XR_002958832.1:n.3836G>A
XR_002958834.1:n.4060G>A
XR_002958835.1:n.3943G>A
XR_002958836.1:n.4626G>A
XR_002958837.1:n.4433G>A
XR_244571.4:n.3953G>A
XR_430568.4:n.4287G>A
NM_001146706.2:c.3495G>A NP_001140178.1:p.Trp1165Ter
NM_004653.5:c.3666G>A MANE Select NP_004644.2:p.Trp1222Ter
NM_001146705.2:c.3759G>A NP_001140177.1:p.Trp1253Ter