Canonical Allele Identifier: CA414840015
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706073C>G , CM000686.2:g.19706073C>G GRCh38
NC_000024.9:g.21867959C>G , CM000686.1:g.21867959C>G GRCh37
NC_000024.8:g.20327347C>G NCBI36
NG_032920.1:g.43867G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4542G>C MANE Select ENSP00000322408.4:p.Lys1514Asn
ENST00000317961.8:c.4542G>C ENSP00000322408.4:p.Lys1514Asn
ENST00000382806.6:c.4371G>C ENSP00000372256.2:p.Lys1457Asn
ENST00000440077.5:c.4419G>C ENSP00000398543.1:p.Lys1473Asn
ENST00000469599.6:n.3293G>C
ENST00000492117.1:n.4587G>C
ENST00000541639.5:c.4635G>C ENSP00000444293.1:p.Lys1545Asn
NM_001146705.1:c.4635G>C NP_001140177.1:p.Lys1545Asn
NM_001146706.1:c.4371G>C NP_001140178.1:p.Lys1457Asn
NM_004653.4:c.4542G>C NP_004644.2:p.Lys1514Asn
XM_005262560.1:c.4407G>C XP_005262617.1:p.Lys1469Asn
XM_005262561.1:c.4311G>C XP_005262618.1:p.Lys1437Asn
XM_011531468.1:c.4464G>C XP_011529770.1:p.Lys1488Asn
XR_430568.2:n.5317G>C
XM_005262560.3:c.4407G>C XP_005262617.1:p.Lys1469Asn
XM_005262561.3:c.4311G>C XP_005262618.1:p.Lys1437Asn
XM_011531468.3:c.4464G>C XP_011529770.1:p.Lys1488Asn
XM_024452495.1:c.2532G>C XP_024308263.1:p.Lys844Asn
XM_024452496.1:c.2298G>C XP_024308264.1:p.Lys766Asn
XR_001756009.2:n.5280G>C
XR_001756010.2:n.5248G>C
XR_001756011.2:n.5145G>C
XR_001756012.2:n.5293G>C
XR_001756013.2:n.4611G>C
XR_002958832.1:n.4865G>C
XR_002958834.1:n.4936G>C
XR_002958835.1:n.4819G>C
XR_002958836.1:n.5470G>C
XR_002958837.1:n.5277G>C
XR_244571.4:n.4797G>C
XR_430568.4:n.5316G>C
NM_001146706.2:c.4371G>C NP_001140178.1:p.Lys1457Asn
NM_004653.5:c.4542G>C MANE Select NP_004644.2:p.Lys1514Asn
NM_001146705.2:c.4635G>C NP_001140177.1:p.Lys1545Asn