Canonical Allele Identifier: CA414843282

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869364C>A (hg19) ; chrY:g.19707478C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707478C>A , CM000686.2:g.19707478C>A	GRCh38
NC_000024.9:g.21869364C>A , CM000686.1:g.21869364C>A	GRCh37
NC_000024.8:g.20328752C>A	NCBI36
NG_032920.1:g.42462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3668G>T MANE Select	ENSP00000322408.4:p.Trp1223Leu
ENST00000317961.8:c.3668G>T	ENSP00000322408.4:p.Trp1223Leu
ENST00000382806.6:c.3497G>T	ENSP00000372256.2:p.Trp1166Leu
ENST00000415360.1:c.584G>T	ENSP00000389433.1:p.Trp195Leu
ENST00000440077.5:c.3545G>T	ENSP00000398543.1:p.Trp1182Leu
ENST00000469599.6:n.2266G>T
ENST00000492117.1:n.3560G>T
ENST00000541639.5:c.3761G>T	ENSP00000444293.1:p.Trp1254Leu
NM_001146705.1:c.3761G>T	NP_001140177.1:p.Trp1254Leu
NM_001146706.1:c.3497G>T	NP_001140178.1:p.Trp1166Leu
NM_004653.4:c.3668G>T	NP_004644.2:p.Trp1223Leu
XM_005262560.1:c.3533G>T	XP_005262617.1:p.Trp1178Leu
XM_005262561.1:c.3437G>T	XP_005262618.1:p.Trp1146Leu
XM_011531468.1:c.3590G>T	XP_011529770.1:p.Trp1197Leu
XR_244571.2:n.3956G>T
XR_430568.2:n.4290G>T
XM_005262560.3:c.3533G>T	XP_005262617.1:p.Trp1178Leu
XM_005262561.3:c.3437G>T	XP_005262618.1:p.Trp1146Leu
XM_011531468.3:c.3590G>T	XP_011529770.1:p.Trp1197Leu
XM_024452495.1:c.1658G>T	XP_024308263.1:p.Trp553Leu
XM_024452496.1:c.1424G>T	XP_024308264.1:p.Trp475Leu
XR_001756009.2:n.4406G>T
XR_001756010.2:n.4406G>T
XR_001756011.2:n.4271G>T
XR_001756012.2:n.4419G>T
XR_001756013.2:n.3737G>T
XR_002958832.1:n.3838G>T
XR_002958834.1:n.4062G>T
XR_002958835.1:n.3945G>T
XR_002958836.1:n.4628G>T
XR_002958837.1:n.4435G>T
XR_244571.4:n.3955G>T
XR_430568.4:n.4289G>T
NM_001146706.2:c.3497G>T	NP_001140178.1:p.Trp1166Leu
NM_004653.5:c.3668G>T MANE Select	NP_004644.2:p.Trp1223Leu
NM_001146705.2:c.3761G>T	NP_001140177.1:p.Trp1254Leu