Canonical Allele Identifier: CA414839952
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706057C>A , CM000686.2:g.19706057C>A GRCh38
NC_000024.9:g.21867943C>A , CM000686.1:g.21867943C>A GRCh37
NC_000024.8:g.20327331C>A NCBI36
NG_032920.1:g.43883G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4558G>T MANE Select ENSP00000322408.4:p.Ala1520Ser
ENST00000317961.8:c.4558G>T ENSP00000322408.4:p.Ala1520Ser
ENST00000382806.6:c.4387G>T ENSP00000372256.2:p.Ala1463Ser
ENST00000469599.6:n.3309G>T
ENST00000492117.1:n.4603G>T
ENST00000541639.5:c.4651G>T ENSP00000444293.1:p.Ala1551Ser
NM_001146705.1:c.4651G>T NP_001140177.1:p.Ala1551Ser
NM_001146706.1:c.4387G>T NP_001140178.1:p.Ala1463Ser
NM_004653.4:c.4558G>T NP_004644.2:p.Ala1520Ser
XM_005262560.1:c.4423G>T XP_005262617.1:p.Ala1475Ser
XM_005262561.1:c.4327G>T XP_005262618.1:p.Ala1443Ser
XM_011531468.1:c.4480G>T XP_011529770.1:p.Ala1494Ser
XR_430568.2:n.5333G>T
XM_005262560.3:c.4423G>T XP_005262617.1:p.Ala1475Ser
XM_005262561.3:c.4327G>T XP_005262618.1:p.Ala1443Ser
XM_011531468.3:c.4480G>T XP_011529770.1:p.Ala1494Ser
XM_024452495.1:c.2548G>T XP_024308263.1:p.Ala850Ser
XM_024452496.1:c.2314G>T XP_024308264.1:p.Ala772Ser
XR_001756009.2:n.5296G>T
XR_001756010.2:n.5264G>T
XR_001756011.2:n.5161G>T
XR_001756012.2:n.5309G>T
XR_001756013.2:n.4627G>T
XR_002958832.1:n.4881G>T
XR_002958834.1:n.4952G>T
XR_002958835.1:n.4835G>T
XR_002958836.1:n.5486G>T
XR_002958837.1:n.5293G>T
XR_244571.4:n.4813G>T
XR_430568.4:n.5332G>T
NM_001146706.2:c.4387G>T NP_001140178.1:p.Ala1463Ser
NM_004653.5:c.4558G>T MANE Select NP_004644.2:p.Ala1520Ser
NM_001146705.2:c.4651G>T NP_001140177.1:p.Ala1551Ser