Canonical Allele Identifier: CA414840193

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868001G>C (hg19) ; chrY:g.19706115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706115G>C , CM000686.2:g.19706115G>C	GRCh38
NC_000024.9:g.21868001G>C , CM000686.1:g.21868001G>C	GRCh37
NC_000024.8:g.20327389G>C	NCBI36
NG_032920.1:g.43825C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4500C>G MANE Select	ENSP00000322408.4:p.His1500Gln
ENST00000317961.8:c.4500C>G	ENSP00000322408.4:p.His1500Gln
ENST00000382806.6:c.4329C>G	ENSP00000372256.2:p.His1443Gln
ENST00000440077.5:c.4377C>G	ENSP00000398543.1:p.His1459Gln
ENST00000469599.6:n.3251C>G
ENST00000492117.1:n.4545C>G
ENST00000541639.5:c.4593C>G	ENSP00000444293.1:p.His1531Gln
NM_001146705.1:c.4593C>G	NP_001140177.1:p.His1531Gln
NM_001146706.1:c.4329C>G	NP_001140178.1:p.His1443Gln
NM_004653.4:c.4500C>G	NP_004644.2:p.His1500Gln
XM_005262560.1:c.4365C>G	XP_005262617.1:p.His1455Gln
XM_005262561.1:c.4269C>G	XP_005262618.1:p.His1423Gln
XM_011531468.1:c.4422C>G	XP_011529770.1:p.His1474Gln
XR_430568.2:n.5275C>G
XM_005262560.3:c.4365C>G	XP_005262617.1:p.His1455Gln
XM_005262561.3:c.4269C>G	XP_005262618.1:p.His1423Gln
XM_011531468.3:c.4422C>G	XP_011529770.1:p.His1474Gln
XM_024452495.1:c.2490C>G	XP_024308263.1:p.His830Gln
XM_024452496.1:c.2256C>G	XP_024308264.1:p.His752Gln
XR_001756009.2:n.5238C>G
XR_001756010.2:n.5206C>G
XR_001756011.2:n.5103C>G
XR_001756012.2:n.5251C>G
XR_001756013.2:n.4569C>G
XR_002958832.1:n.4823C>G
XR_002958834.1:n.4894C>G
XR_002958835.1:n.4777C>G
XR_002958836.1:n.5428C>G
XR_002958837.1:n.5235C>G
XR_244571.4:n.4755C>G
XR_430568.4:n.5274C>G
NM_001146706.2:c.4329C>G	NP_001140178.1:p.His1443Gln
NM_004653.5:c.4500C>G MANE Select	NP_004644.2:p.His1500Gln
NM_001146705.2:c.4593C>G	NP_001140177.1:p.His1531Gln