Canonical Allele Identifier: CA414843965
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707666A>C , CM000686.2:g.19707666A>C GRCh38
NC_000024.9:g.21869552A>C , CM000686.1:g.21869552A>C GRCh37
NC_000024.8:g.20328940A>C NCBI36
NG_032920.1:g.42274T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3480T>G MANE Select ENSP00000322408.4:p.Ser1160Arg
ENST00000317961.8:c.3480T>G ENSP00000322408.4:p.Ser1160Arg
ENST00000382806.6:c.3309T>G ENSP00000372256.2:p.Ser1103Arg
ENST00000415360.1:c.396T>G ENSP00000389433.1:p.Ser132Arg
ENST00000440077.5:c.3357T>G ENSP00000398543.1:p.Ser1119Arg
ENST00000469599.6:n.2078T>G
ENST00000492117.1:n.3372T>G
ENST00000541639.5:c.3573T>G ENSP00000444293.1:p.Ser1191Arg
NM_001146705.1:c.3573T>G NP_001140177.1:p.Ser1191Arg
NM_001146706.1:c.3309T>G NP_001140178.1:p.Ser1103Arg
NM_004653.4:c.3480T>G NP_004644.2:p.Ser1160Arg
XM_005262560.1:c.3345T>G XP_005262617.1:p.Ser1115Arg
XM_005262561.1:c.3249T>G XP_005262618.1:p.Ser1083Arg
XM_011531468.1:c.3402T>G XP_011529770.1:p.Ser1134Arg
XR_244571.2:n.3768T>G
XR_430568.2:n.4102T>G
XM_005262560.3:c.3345T>G XP_005262617.1:p.Ser1115Arg
XM_005262561.3:c.3249T>G XP_005262618.1:p.Ser1083Arg
XM_011531468.3:c.3402T>G XP_011529770.1:p.Ser1134Arg
XM_024452495.1:c.1470T>G XP_024308263.1:p.Ser490Arg
XM_024452496.1:c.1236T>G XP_024308264.1:p.Ser412Arg
XR_001756009.2:n.4218T>G
XR_001756010.2:n.4218T>G
XR_001756011.2:n.4083T>G
XR_001756012.2:n.4231T>G
XR_001756013.2:n.3549T>G
XR_002958832.1:n.3650T>G
XR_002958834.1:n.3874T>G
XR_002958835.1:n.3757T>G
XR_002958836.1:n.4440T>G
XR_002958837.1:n.4247T>G
XR_244571.4:n.3767T>G
XR_430568.4:n.4101T>G
NM_001146706.2:c.3309T>G NP_001140178.1:p.Ser1103Arg
NM_004653.5:c.3480T>G MANE Select NP_004644.2:p.Ser1160Arg
NM_001146705.2:c.3573T>G NP_001140177.1:p.Ser1191Arg