Canonical Allele Identifier: CA10574759
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs199572451
gnomAD v2: Y-21869856-C-T
gnomAD v3: Y-19707970-C-T
gnomAD v4: Y-19707970-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707970C>T , CM000686.2:g.19707970C>T GRCh38
NC_000024.9:g.21869856C>T , CM000686.1:g.21869856C>T GRCh37
NC_000024.8:g.20329244C>T NCBI36
NG_032920.1:g.41970G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3363G>A MANE Select ENSP00000322408.4:p.Gly1121=
ENST00000317961.8:c.3363G>A ENSP00000322408.4:p.Gly1121=
ENST00000382806.6:c.3192G>A ENSP00000372256.2:p.Gly1064=
ENST00000415360.1:c.279G>A ENSP00000389433.1:p.Gly93=
ENST00000440077.5:c.3240G>A ENSP00000398543.1:p.Gly1080=
ENST00000469599.6:n.1961G>A
ENST00000492117.1:n.3255G>A
ENST00000541639.5:c.3456G>A ENSP00000444293.1:p.Gly1152=
NM_001146705.1:c.3456G>A NP_001140177.1:p.Gly1152=
NM_001146706.1:c.3192G>A NP_001140178.1:p.Gly1064=
NM_004653.4:c.3363G>A NP_004644.2:p.Gly1121=
XM_005262560.1:c.3228G>A XP_005262617.1:p.Gly1076=
XM_005262561.1:c.3132G>A XP_005262618.1:p.Gly1044=
XM_011531468.1:c.3285G>A XP_011529770.1:p.Gly1095=
XR_244571.2:n.3651G>A
XR_430568.2:n.3985G>A
XM_005262560.3:c.3228G>A XP_005262617.1:p.Gly1076=
XM_005262561.3:c.3132G>A XP_005262618.1:p.Gly1044=
XM_011531468.3:c.3285G>A XP_011529770.1:p.Gly1095=
XM_024452495.1:c.1353G>A XP_024308263.1:p.Gly451=
XM_024452496.1:c.1119G>A XP_024308264.1:p.Gly373=
XR_001756009.2:n.4101G>A
XR_001756010.2:n.4101G>A
XR_001756011.2:n.3966G>A
XR_001756012.2:n.4114G>A
XR_001756013.2:n.3432G>A
XR_002958832.1:n.3533G>A
XR_002958834.1:n.3757G>A
XR_002958835.1:n.3640G>A
XR_002958836.1:n.4323G>A
XR_002958837.1:n.4130G>A
XR_244571.4:n.3650G>A
XR_430568.4:n.3984G>A
NM_001146706.2:c.3192G>A NP_001140178.1:p.Gly1064=
NM_004653.5:c.3363G>A MANE Select NP_004644.2:p.Gly1121=
NM_001146705.2:c.3456G>A NP_001140177.1:p.Gly1152=