Canonical Allele Identifier: CA414844467
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708002C>A , CM000686.2:g.19708002C>A GRCh38
NC_000024.9:g.21869888C>A , CM000686.1:g.21869888C>A GRCh37
NC_000024.8:g.20329276C>A NCBI36
NG_032920.1:g.41938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3331G>T MANE Select ENSP00000322408.4:p.Gly1111Trp
ENST00000317961.8:c.3331G>T ENSP00000322408.4:p.Gly1111Trp
ENST00000382806.6:c.3160G>T ENSP00000372256.2:p.Gly1054Trp
ENST00000415360.1:c.247G>T ENSP00000389433.1:p.Gly83Trp
ENST00000440077.5:c.3208G>T ENSP00000398543.1:p.Gly1070Trp
ENST00000469599.6:n.1929G>T
ENST00000492117.1:n.3223G>T
ENST00000541639.5:c.3424G>T ENSP00000444293.1:p.Gly1142Trp
NM_001146705.1:c.3424G>T NP_001140177.1:p.Gly1142Trp
NM_001146706.1:c.3160G>T NP_001140178.1:p.Gly1054Trp
NM_004653.4:c.3331G>T NP_004644.2:p.Gly1111Trp
XM_005262560.1:c.3196G>T XP_005262617.1:p.Gly1066Trp
XM_005262561.1:c.3100G>T XP_005262618.1:p.Gly1034Trp
XM_011531468.1:c.3253G>T XP_011529770.1:p.Gly1085Trp
XR_244571.2:n.3619G>T
XR_430568.2:n.3953G>T
XM_005262560.3:c.3196G>T XP_005262617.1:p.Gly1066Trp
XM_005262561.3:c.3100G>T XP_005262618.1:p.Gly1034Trp
XM_011531468.3:c.3253G>T XP_011529770.1:p.Gly1085Trp
XM_024452495.1:c.1321G>T XP_024308263.1:p.Gly441Trp
XM_024452496.1:c.1087G>T XP_024308264.1:p.Gly363Trp
XR_001756009.2:n.4069G>T
XR_001756010.2:n.4069G>T
XR_001756011.2:n.3934G>T
XR_001756012.2:n.4082G>T
XR_001756013.2:n.3400G>T
XR_002958832.1:n.3501G>T
XR_002958834.1:n.3725G>T
XR_002958835.1:n.3608G>T
XR_002958836.1:n.4291G>T
XR_002958837.1:n.4098G>T
XR_244571.4:n.3618G>T
XR_430568.4:n.3952G>T
NM_001146706.2:c.3160G>T NP_001140178.1:p.Gly1054Trp
NM_004653.5:c.3331G>T MANE Select NP_004644.2:p.Gly1111Trp
NM_001146705.2:c.3424G>T NP_001140177.1:p.Gly1142Trp