Canonical Allele Identifier: CA414844693
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708047C>T , CM000686.2:g.19708047C>T GRCh38
NC_000024.9:g.21869933C>T , CM000686.1:g.21869933C>T GRCh37
NC_000024.8:g.20329321C>T NCBI36
NG_032920.1:g.41893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3286G>A MANE Select ENSP00000322408.4:p.Gly1096Ser
ENST00000317961.8:c.3286G>A ENSP00000322408.4:p.Gly1096Ser
ENST00000382806.6:c.3115G>A ENSP00000372256.2:p.Gly1039Ser
ENST00000415360.1:c.202G>A ENSP00000389433.1:p.Gly68Ser
ENST00000440077.5:c.3163G>A ENSP00000398543.1:p.Gly1055Ser
ENST00000469599.6:n.1884G>A
ENST00000492117.1:n.3178G>A
ENST00000541639.5:c.3379G>A ENSP00000444293.1:p.Gly1127Ser
NM_001146705.1:c.3379G>A NP_001140177.1:p.Gly1127Ser
NM_001146706.1:c.3115G>A NP_001140178.1:p.Gly1039Ser
NM_004653.4:c.3286G>A NP_004644.2:p.Gly1096Ser
XM_005262560.1:c.3151G>A XP_005262617.1:p.Gly1051Ser
XM_005262561.1:c.3055G>A XP_005262618.1:p.Gly1019Ser
XM_011531468.1:c.3208G>A XP_011529770.1:p.Gly1070Ser
XR_244571.2:n.3574G>A
XR_430568.2:n.3908G>A
XM_005262560.3:c.3151G>A XP_005262617.1:p.Gly1051Ser
XM_005262561.3:c.3055G>A XP_005262618.1:p.Gly1019Ser
XM_011531468.3:c.3208G>A XP_011529770.1:p.Gly1070Ser
XM_024452495.1:c.1276G>A XP_024308263.1:p.Gly426Ser
XM_024452496.1:c.1042G>A XP_024308264.1:p.Gly348Ser
XR_001756009.2:n.4024G>A
XR_001756010.2:n.4024G>A
XR_001756011.2:n.3889G>A
XR_001756012.2:n.4037G>A
XR_001756013.2:n.3355G>A
XR_002958832.1:n.3456G>A
XR_002958834.1:n.3680G>A
XR_002958835.1:n.3563G>A
XR_002958836.1:n.4246G>A
XR_002958837.1:n.4053G>A
XR_244571.4:n.3573G>A
XR_430568.4:n.3907G>A
NM_001146706.2:c.3115G>A NP_001140178.1:p.Gly1039Ser
NM_004653.5:c.3286G>A MANE Select NP_004644.2:p.Gly1096Ser
NM_001146705.2:c.3379G>A NP_001140177.1:p.Gly1127Ser