Canonical Allele Identifier: CA414844234
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707935A>C , CM000686.2:g.19707935A>C GRCh38
NC_000024.9:g.21869821A>C , CM000686.1:g.21869821A>C GRCh37
NC_000024.8:g.20329209A>C NCBI36
NG_032920.1:g.42005T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3398T>G MANE Select ENSP00000322408.4:p.Val1133Gly
ENST00000317961.8:c.3398T>G ENSP00000322408.4:p.Val1133Gly
ENST00000382806.6:c.3227T>G ENSP00000372256.2:p.Val1076Gly
ENST00000415360.1:c.314T>G ENSP00000389433.1:p.Val105Gly
ENST00000440077.5:c.3275T>G ENSP00000398543.1:p.Val1092Gly
ENST00000469599.6:n.1996T>G
ENST00000492117.1:n.3290T>G
ENST00000541639.5:c.3491T>G ENSP00000444293.1:p.Val1164Gly
NM_001146705.1:c.3491T>G NP_001140177.1:p.Val1164Gly
NM_001146706.1:c.3227T>G NP_001140178.1:p.Val1076Gly
NM_004653.4:c.3398T>G NP_004644.2:p.Val1133Gly
XM_005262560.1:c.3263T>G XP_005262617.1:p.Val1088Gly
XM_005262561.1:c.3167T>G XP_005262618.1:p.Val1056Gly
XM_011531468.1:c.3320T>G XP_011529770.1:p.Val1107Gly
XR_244571.2:n.3686T>G
XR_430568.2:n.4020T>G
XM_005262560.3:c.3263T>G XP_005262617.1:p.Val1088Gly
XM_005262561.3:c.3167T>G XP_005262618.1:p.Val1056Gly
XM_011531468.3:c.3320T>G XP_011529770.1:p.Val1107Gly
XM_024452495.1:c.1388T>G XP_024308263.1:p.Val463Gly
XM_024452496.1:c.1154T>G XP_024308264.1:p.Val385Gly
XR_001756009.2:n.4136T>G
XR_001756010.2:n.4136T>G
XR_001756011.2:n.4001T>G
XR_001756012.2:n.4149T>G
XR_001756013.2:n.3467T>G
XR_002958832.1:n.3568T>G
XR_002958834.1:n.3792T>G
XR_002958835.1:n.3675T>G
XR_002958836.1:n.4358T>G
XR_002958837.1:n.4165T>G
XR_244571.4:n.3685T>G
XR_430568.4:n.4019T>G
NM_001146706.2:c.3227T>G NP_001140178.1:p.Val1076Gly
NM_004653.5:c.3398T>G MANE Select NP_004644.2:p.Val1133Gly
NM_001146705.2:c.3491T>G NP_001140177.1:p.Val1164Gly