Canonical Allele Identifier: CA520159168
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21867890T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706004T>C , CM000686.2:g.19706004T>C GRCh38
NC_000024.9:g.21867890T>C , CM000686.1:g.21867890T>C GRCh37
NC_000024.8:g.20327278T>C NCBI36
NG_032920.1:g.43936A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4611A>G MANE Select ENSP00000322408.4:p.Gln1537=
ENST00000317961.8:c.4611A>G ENSP00000322408.4:p.Gln1537=
ENST00000382806.6:c.4440A>G ENSP00000372256.2:p.Gln1480=
ENST00000469599.6:n.3362A>G
ENST00000492117.1:n.4656A>G
ENST00000541639.5:c.4704A>G ENSP00000444293.1:p.Gln1568=
NM_001146705.1:c.4704A>G NP_001140177.1:p.Gln1568=
NM_001146706.1:c.4440A>G NP_001140178.1:p.Gln1480=
NM_004653.4:c.4611A>G NP_004644.2:p.Gln1537=
XM_005262560.1:c.4476A>G XP_005262617.1:p.Gln1492=
XM_005262561.1:c.4380A>G XP_005262618.1:p.Gln1460=
XM_011531468.1:c.4533A>G XP_011529770.1:p.Gln1511=
XR_430568.2:n.5386A>G
XM_005262560.3:c.4476A>G XP_005262617.1:p.Gln1492=
XM_005262561.3:c.4380A>G XP_005262618.1:p.Gln1460=
XM_011531468.3:c.4533A>G XP_011529770.1:p.Gln1511=
XM_024452495.1:c.2601A>G XP_024308263.1:p.Gln867=
XM_024452496.1:c.2367A>G XP_024308264.1:p.Gln789=
XR_001756009.2:n.5349A>G
XR_001756010.2:n.5317A>G
XR_001756011.2:n.5214A>G
XR_001756012.2:n.5362A>G
XR_001756013.2:n.4680A>G
XR_002958832.1:n.4934A>G
XR_002958834.1:n.5005A>G
XR_002958835.1:n.4888A>G
XR_002958836.1:n.5539A>G
XR_002958837.1:n.5346A>G
XR_244571.4:n.4866A>G
XR_430568.4:n.5385A>G
NM_001146706.2:c.4440A>G NP_001140178.1:p.Gln1480=
NM_004653.5:c.4611A>G MANE Select NP_004644.2:p.Gln1537=
NM_001146705.2:c.4704A>G NP_001140177.1:p.Gln1568=