Canonical Allele Identifier: CA414840203

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868003G>C (hg19) ; chrY:g.19706117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706117G>C , CM000686.2:g.19706117G>C	GRCh38
NC_000024.9:g.21868003G>C , CM000686.1:g.21868003G>C	GRCh37
NC_000024.8:g.20327391G>C	NCBI36
NG_032920.1:g.43823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4498C>G MANE Select	ENSP00000322408.4:p.His1500Asp
ENST00000317961.8:c.4498C>G	ENSP00000322408.4:p.His1500Asp
ENST00000382806.6:c.4327C>G	ENSP00000372256.2:p.His1443Asp
ENST00000440077.5:c.4375C>G	ENSP00000398543.1:p.His1459Asp
ENST00000469599.6:n.3249C>G
ENST00000492117.1:n.4543C>G
ENST00000541639.5:c.4591C>G	ENSP00000444293.1:p.His1531Asp
NM_001146705.1:c.4591C>G	NP_001140177.1:p.His1531Asp
NM_001146706.1:c.4327C>G	NP_001140178.1:p.His1443Asp
NM_004653.4:c.4498C>G	NP_004644.2:p.His1500Asp
XM_005262560.1:c.4363C>G	XP_005262617.1:p.His1455Asp
XM_005262561.1:c.4267C>G	XP_005262618.1:p.His1423Asp
XM_011531468.1:c.4420C>G	XP_011529770.1:p.His1474Asp
XR_430568.2:n.5273C>G
XM_005262560.3:c.4363C>G	XP_005262617.1:p.His1455Asp
XM_005262561.3:c.4267C>G	XP_005262618.1:p.His1423Asp
XM_011531468.3:c.4420C>G	XP_011529770.1:p.His1474Asp
XM_024452495.1:c.2488C>G	XP_024308263.1:p.His830Asp
XM_024452496.1:c.2254C>G	XP_024308264.1:p.His752Asp
XR_001756009.2:n.5236C>G
XR_001756010.2:n.5204C>G
XR_001756011.2:n.5101C>G
XR_001756012.2:n.5249C>G
XR_001756013.2:n.4567C>G
XR_002958832.1:n.4821C>G
XR_002958834.1:n.4892C>G
XR_002958835.1:n.4775C>G
XR_002958836.1:n.5426C>G
XR_002958837.1:n.5233C>G
XR_244571.4:n.4753C>G
XR_430568.4:n.5272C>G
NM_001146706.2:c.4327C>G	NP_001140178.1:p.His1443Asp
NM_004653.5:c.4498C>G MANE Select	NP_004644.2:p.His1500Asp
NM_001146705.2:c.4591C>G	NP_001140177.1:p.His1531Asp