Canonical Allele Identifier: CA414844701
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708050C>A , CM000686.2:g.19708050C>A GRCh38
NC_000024.9:g.21869936C>A , CM000686.1:g.21869936C>A GRCh37
NC_000024.8:g.20329324C>A NCBI36
NG_032920.1:g.41890G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3283G>T MANE Select ENSP00000322408.4:p.Ala1095Ser
ENST00000317961.8:c.3283G>T ENSP00000322408.4:p.Ala1095Ser
ENST00000382806.6:c.3112G>T ENSP00000372256.2:p.Ala1038Ser
ENST00000415360.1:c.199G>T ENSP00000389433.1:p.Ala67Ser
ENST00000440077.5:c.3160G>T ENSP00000398543.1:p.Ala1054Ser
ENST00000469599.6:n.1881G>T
ENST00000492117.1:n.3175G>T
ENST00000541639.5:c.3376G>T ENSP00000444293.1:p.Ala1126Ser
NM_001146705.1:c.3376G>T NP_001140177.1:p.Ala1126Ser
NM_001146706.1:c.3112G>T NP_001140178.1:p.Ala1038Ser
NM_004653.4:c.3283G>T NP_004644.2:p.Ala1095Ser
XM_005262560.1:c.3148G>T XP_005262617.1:p.Ala1050Ser
XM_005262561.1:c.3052G>T XP_005262618.1:p.Ala1018Ser
XM_011531468.1:c.3205G>T XP_011529770.1:p.Ala1069Ser
XR_244571.2:n.3571G>T
XR_430568.2:n.3905G>T
XM_005262560.3:c.3148G>T XP_005262617.1:p.Ala1050Ser
XM_005262561.3:c.3052G>T XP_005262618.1:p.Ala1018Ser
XM_011531468.3:c.3205G>T XP_011529770.1:p.Ala1069Ser
XM_024452495.1:c.1273G>T XP_024308263.1:p.Ala425Ser
XM_024452496.1:c.1039G>T XP_024308264.1:p.Ala347Ser
XR_001756009.2:n.4021G>T
XR_001756010.2:n.4021G>T
XR_001756011.2:n.3886G>T
XR_001756012.2:n.4034G>T
XR_001756013.2:n.3352G>T
XR_002958832.1:n.3453G>T
XR_002958834.1:n.3677G>T
XR_002958835.1:n.3560G>T
XR_002958836.1:n.4243G>T
XR_002958837.1:n.4050G>T
XR_244571.4:n.3570G>T
XR_430568.4:n.3904G>T
NM_001146706.2:c.3112G>T NP_001140178.1:p.Ala1038Ser
NM_004653.5:c.3283G>T MANE Select NP_004644.2:p.Ala1095Ser
NM_001146705.2:c.3376G>T NP_001140177.1:p.Ala1126Ser