Canonical Allele Identifier: CA414844404
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707986T>C , CM000686.2:g.19707986T>C GRCh38
NC_000024.9:g.21869872T>C , CM000686.1:g.21869872T>C GRCh37
NC_000024.8:g.20329260T>C NCBI36
NG_032920.1:g.41954A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3347A>G MANE Select ENSP00000322408.4:p.Asp1116Gly
ENST00000317961.8:c.3347A>G ENSP00000322408.4:p.Asp1116Gly
ENST00000382806.6:c.3176A>G ENSP00000372256.2:p.Asp1059Gly
ENST00000415360.1:c.263A>G ENSP00000389433.1:p.Asp88Gly
ENST00000440077.5:c.3224A>G ENSP00000398543.1:p.Asp1075Gly
ENST00000469599.6:n.1945A>G
ENST00000492117.1:n.3239A>G
ENST00000541639.5:c.3440A>G ENSP00000444293.1:p.Asp1147Gly
NM_001146705.1:c.3440A>G NP_001140177.1:p.Asp1147Gly
NM_001146706.1:c.3176A>G NP_001140178.1:p.Asp1059Gly
NM_004653.4:c.3347A>G NP_004644.2:p.Asp1116Gly
XM_005262560.1:c.3212A>G XP_005262617.1:p.Asp1071Gly
XM_005262561.1:c.3116A>G XP_005262618.1:p.Asp1039Gly
XM_011531468.1:c.3269A>G XP_011529770.1:p.Asp1090Gly
XR_244571.2:n.3635A>G
XR_430568.2:n.3969A>G
XM_005262560.3:c.3212A>G XP_005262617.1:p.Asp1071Gly
XM_005262561.3:c.3116A>G XP_005262618.1:p.Asp1039Gly
XM_011531468.3:c.3269A>G XP_011529770.1:p.Asp1090Gly
XM_024452495.1:c.1337A>G XP_024308263.1:p.Asp446Gly
XM_024452496.1:c.1103A>G XP_024308264.1:p.Asp368Gly
XR_001756009.2:n.4085A>G
XR_001756010.2:n.4085A>G
XR_001756011.2:n.3950A>G
XR_001756012.2:n.4098A>G
XR_001756013.2:n.3416A>G
XR_002958832.1:n.3517A>G
XR_002958834.1:n.3741A>G
XR_002958835.1:n.3624A>G
XR_002958836.1:n.4307A>G
XR_002958837.1:n.4114A>G
XR_244571.4:n.3634A>G
XR_430568.4:n.3968A>G
NM_001146706.2:c.3176A>G NP_001140178.1:p.Asp1059Gly
NM_004653.5:c.3347A>G MANE Select NP_004644.2:p.Asp1116Gly
NM_001146705.2:c.3440A>G NP_001140177.1:p.Asp1147Gly