Canonical Allele Identifier: CA414840247

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868017G>C (hg19) ; chrY:g.19706131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706131G>C , CM000686.2:g.19706131G>C	GRCh38
NC_000024.9:g.21868017G>C , CM000686.1:g.21868017G>C	GRCh37
NC_000024.8:g.20327405G>C	NCBI36
NG_032920.1:g.43809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4484C>G MANE Select	ENSP00000322408.4:p.Thr1495Arg
ENST00000317961.8:c.4484C>G	ENSP00000322408.4:p.Thr1495Arg
ENST00000382806.6:c.4313C>G	ENSP00000372256.2:p.Thr1438Arg
ENST00000440077.5:c.4361C>G	ENSP00000398543.1:p.Thr1454Arg
ENST00000469599.6:n.3235C>G
ENST00000492117.1:n.4529C>G
ENST00000541639.5:c.4577C>G	ENSP00000444293.1:p.Thr1526Arg
NM_001146705.1:c.4577C>G	NP_001140177.1:p.Thr1526Arg
NM_001146706.1:c.4313C>G	NP_001140178.1:p.Thr1438Arg
NM_004653.4:c.4484C>G	NP_004644.2:p.Thr1495Arg
XM_005262560.1:c.4349C>G	XP_005262617.1:p.Thr1450Arg
XM_005262561.1:c.4253C>G	XP_005262618.1:p.Thr1418Arg
XM_011531468.1:c.4406C>G	XP_011529770.1:p.Thr1469Arg
XR_430568.2:n.5259C>G
XM_005262560.3:c.4349C>G	XP_005262617.1:p.Thr1450Arg
XM_005262561.3:c.4253C>G	XP_005262618.1:p.Thr1418Arg
XM_011531468.3:c.4406C>G	XP_011529770.1:p.Thr1469Arg
XM_024452495.1:c.2474C>G	XP_024308263.1:p.Thr825Arg
XM_024452496.1:c.2240C>G	XP_024308264.1:p.Thr747Arg
XR_001756009.2:n.5222C>G
XR_001756010.2:n.5190C>G
XR_001756011.2:n.5087C>G
XR_001756012.2:n.5235C>G
XR_001756013.2:n.4553C>G
XR_002958832.1:n.4807C>G
XR_002958834.1:n.4878C>G
XR_002958835.1:n.4761C>G
XR_002958836.1:n.5412C>G
XR_002958837.1:n.5219C>G
XR_244571.4:n.4739C>G
XR_430568.4:n.5258C>G
NM_001146706.2:c.4313C>G	NP_001140178.1:p.Thr1438Arg
NM_004653.5:c.4484C>G MANE Select	NP_004644.2:p.Thr1495Arg
NM_001146705.2:c.4577C>G	NP_001140177.1:p.Thr1526Arg