Canonical Allele Identifier: CA414843962
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707665G>A , CM000686.2:g.19707665G>A GRCh38
NC_000024.9:g.21869551G>A , CM000686.1:g.21869551G>A GRCh37
NC_000024.8:g.20328939G>A NCBI36
NG_032920.1:g.42275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3481C>T MANE Select ENSP00000322408.4:p.Pro1161Ser
ENST00000317961.8:c.3481C>T ENSP00000322408.4:p.Pro1161Ser
ENST00000382806.6:c.3310C>T ENSP00000372256.2:p.Pro1104Ser
ENST00000415360.1:c.397C>T ENSP00000389433.1:p.Pro133Ser
ENST00000440077.5:c.3358C>T ENSP00000398543.1:p.Pro1120Ser
ENST00000469599.6:n.2079C>T
ENST00000492117.1:n.3373C>T
ENST00000541639.5:c.3574C>T ENSP00000444293.1:p.Pro1192Ser
NM_001146705.1:c.3574C>T NP_001140177.1:p.Pro1192Ser
NM_001146706.1:c.3310C>T NP_001140178.1:p.Pro1104Ser
NM_004653.4:c.3481C>T NP_004644.2:p.Pro1161Ser
XM_005262560.1:c.3346C>T XP_005262617.1:p.Pro1116Ser
XM_005262561.1:c.3250C>T XP_005262618.1:p.Pro1084Ser
XM_011531468.1:c.3403C>T XP_011529770.1:p.Pro1135Ser
XR_244571.2:n.3769C>T
XR_430568.2:n.4103C>T
XM_005262560.3:c.3346C>T XP_005262617.1:p.Pro1116Ser
XM_005262561.3:c.3250C>T XP_005262618.1:p.Pro1084Ser
XM_011531468.3:c.3403C>T XP_011529770.1:p.Pro1135Ser
XM_024452495.1:c.1471C>T XP_024308263.1:p.Pro491Ser
XM_024452496.1:c.1237C>T XP_024308264.1:p.Pro413Ser
XR_001756009.2:n.4219C>T
XR_001756010.2:n.4219C>T
XR_001756011.2:n.4084C>T
XR_001756012.2:n.4232C>T
XR_001756013.2:n.3550C>T
XR_002958832.1:n.3651C>T
XR_002958834.1:n.3875C>T
XR_002958835.1:n.3758C>T
XR_002958836.1:n.4441C>T
XR_002958837.1:n.4248C>T
XR_244571.4:n.3768C>T
XR_430568.4:n.4102C>T
NM_001146706.2:c.3310C>T NP_001140178.1:p.Pro1104Ser
NM_004653.5:c.3481C>T MANE Select NP_004644.2:p.Pro1161Ser
NM_001146705.2:c.3574C>T NP_001140177.1:p.Pro1192Ser