Canonical Allele Identifier: CA414843280

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869363C>A (hg19) ; chrY:g.19707477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707477C>A , CM000686.2:g.19707477C>A	GRCh38
NC_000024.9:g.21869363C>A , CM000686.1:g.21869363C>A	GRCh37
NC_000024.8:g.20328751C>A	NCBI36
NG_032920.1:g.42463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3669G>T MANE Select	ENSP00000322408.4:p.Trp1223Cys
ENST00000317961.8:c.3669G>T	ENSP00000322408.4:p.Trp1223Cys
ENST00000382806.6:c.3498G>T	ENSP00000372256.2:p.Trp1166Cys
ENST00000415360.1:c.585G>T	ENSP00000389433.1:p.Trp195Cys
ENST00000440077.5:c.3546G>T	ENSP00000398543.1:p.Trp1182Cys
ENST00000469599.6:n.2267G>T
ENST00000492117.1:n.3561G>T
ENST00000541639.5:c.3762G>T	ENSP00000444293.1:p.Trp1254Cys
NM_001146705.1:c.3762G>T	NP_001140177.1:p.Trp1254Cys
NM_001146706.1:c.3498G>T	NP_001140178.1:p.Trp1166Cys
NM_004653.4:c.3669G>T	NP_004644.2:p.Trp1223Cys
XM_005262560.1:c.3534G>T	XP_005262617.1:p.Trp1178Cys
XM_005262561.1:c.3438G>T	XP_005262618.1:p.Trp1146Cys
XM_011531468.1:c.3591G>T	XP_011529770.1:p.Trp1197Cys
XR_244571.2:n.3957G>T
XR_430568.2:n.4291G>T
XM_005262560.3:c.3534G>T	XP_005262617.1:p.Trp1178Cys
XM_005262561.3:c.3438G>T	XP_005262618.1:p.Trp1146Cys
XM_011531468.3:c.3591G>T	XP_011529770.1:p.Trp1197Cys
XM_024452495.1:c.1659G>T	XP_024308263.1:p.Trp553Cys
XM_024452496.1:c.1425G>T	XP_024308264.1:p.Trp475Cys
XR_001756009.2:n.4407G>T
XR_001756010.2:n.4407G>T
XR_001756011.2:n.4272G>T
XR_001756012.2:n.4420G>T
XR_001756013.2:n.3738G>T
XR_002958832.1:n.3839G>T
XR_002958834.1:n.4063G>T
XR_002958835.1:n.3946G>T
XR_002958836.1:n.4629G>T
XR_002958837.1:n.4436G>T
XR_244571.4:n.3956G>T
XR_430568.4:n.4290G>T
NM_001146706.2:c.3498G>T	NP_001140178.1:p.Trp1166Cys
NM_004653.5:c.3669G>T MANE Select	NP_004644.2:p.Trp1223Cys
NM_001146705.2:c.3762G>T	NP_001140177.1:p.Trp1254Cys