Canonical Allele Identifier: CA414843257

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869358C>A (hg19) ; chrY:g.19707472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707472C>A , CM000686.2:g.19707472C>A	GRCh38
NC_000024.9:g.21869358C>A , CM000686.1:g.21869358C>A	GRCh37
NC_000024.8:g.20328746C>A	NCBI36
NG_032920.1:g.42468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3674G>T MANE Select	ENSP00000322408.4:p.Trp1225Leu
ENST00000317961.8:c.3674G>T	ENSP00000322408.4:p.Trp1225Leu
ENST00000382806.6:c.3503G>T	ENSP00000372256.2:p.Trp1168Leu
ENST00000415360.1:c.590G>T	ENSP00000389433.1:p.Trp197Leu
ENST00000440077.5:c.3551G>T	ENSP00000398543.1:p.Trp1184Leu
ENST00000469599.6:n.2272G>T
ENST00000492117.1:n.3566G>T
ENST00000541639.5:c.3767G>T	ENSP00000444293.1:p.Trp1256Leu
NM_001146705.1:c.3767G>T	NP_001140177.1:p.Trp1256Leu
NM_001146706.1:c.3503G>T	NP_001140178.1:p.Trp1168Leu
NM_004653.4:c.3674G>T	NP_004644.2:p.Trp1225Leu
XM_005262560.1:c.3539G>T	XP_005262617.1:p.Trp1180Leu
XM_005262561.1:c.3443G>T	XP_005262618.1:p.Trp1148Leu
XM_011531468.1:c.3596G>T	XP_011529770.1:p.Trp1199Leu
XR_244571.2:n.3962G>T
XR_430568.2:n.4296G>T
XM_005262560.3:c.3539G>T	XP_005262617.1:p.Trp1180Leu
XM_005262561.3:c.3443G>T	XP_005262618.1:p.Trp1148Leu
XM_011531468.3:c.3596G>T	XP_011529770.1:p.Trp1199Leu
XM_024452495.1:c.1664G>T	XP_024308263.1:p.Trp555Leu
XM_024452496.1:c.1430G>T	XP_024308264.1:p.Trp477Leu
XR_001756009.2:n.4412G>T
XR_001756010.2:n.4412G>T
XR_001756011.2:n.4277G>T
XR_001756012.2:n.4425G>T
XR_001756013.2:n.3743G>T
XR_002958832.1:n.3844G>T
XR_002958834.1:n.4068G>T
XR_002958835.1:n.3951G>T
XR_002958836.1:n.4634G>T
XR_002958837.1:n.4441G>T
XR_244571.4:n.3961G>T
XR_430568.4:n.4295G>T
NM_001146706.2:c.3503G>T	NP_001140178.1:p.Trp1168Leu
NM_004653.5:c.3674G>T MANE Select	NP_004644.2:p.Trp1225Leu
NM_001146705.2:c.3767G>T	NP_001140177.1:p.Trp1256Leu