Canonical Allele Identifier: CA414843296

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869367C>A (hg19) ; chrY:g.19707481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707481C>A , CM000686.2:g.19707481C>A	GRCh38
NC_000024.9:g.21869367C>A , CM000686.1:g.21869367C>A	GRCh37
NC_000024.8:g.20328755C>A	NCBI36
NG_032920.1:g.42459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3665G>T MANE Select	ENSP00000322408.4:p.Trp1222Leu
ENST00000317961.8:c.3665G>T	ENSP00000322408.4:p.Trp1222Leu
ENST00000382806.6:c.3494G>T	ENSP00000372256.2:p.Trp1165Leu
ENST00000415360.1:c.581G>T	ENSP00000389433.1:p.Trp194Leu
ENST00000440077.5:c.3542G>T	ENSP00000398543.1:p.Trp1181Leu
ENST00000469599.6:n.2263G>T
ENST00000492117.1:n.3557G>T
ENST00000541639.5:c.3758G>T	ENSP00000444293.1:p.Trp1253Leu
NM_001146705.1:c.3758G>T	NP_001140177.1:p.Trp1253Leu
NM_001146706.1:c.3494G>T	NP_001140178.1:p.Trp1165Leu
NM_004653.4:c.3665G>T	NP_004644.2:p.Trp1222Leu
XM_005262560.1:c.3530G>T	XP_005262617.1:p.Trp1177Leu
XM_005262561.1:c.3434G>T	XP_005262618.1:p.Trp1145Leu
XM_011531468.1:c.3587G>T	XP_011529770.1:p.Trp1196Leu
XR_244571.2:n.3953G>T
XR_430568.2:n.4287G>T
XM_005262560.3:c.3530G>T	XP_005262617.1:p.Trp1177Leu
XM_005262561.3:c.3434G>T	XP_005262618.1:p.Trp1145Leu
XM_011531468.3:c.3587G>T	XP_011529770.1:p.Trp1196Leu
XM_024452495.1:c.1655G>T	XP_024308263.1:p.Trp552Leu
XM_024452496.1:c.1421G>T	XP_024308264.1:p.Trp474Leu
XR_001756009.2:n.4403G>T
XR_001756010.2:n.4403G>T
XR_001756011.2:n.4268G>T
XR_001756012.2:n.4416G>T
XR_001756013.2:n.3734G>T
XR_002958832.1:n.3835G>T
XR_002958834.1:n.4059G>T
XR_002958835.1:n.3942G>T
XR_002958836.1:n.4625G>T
XR_002958837.1:n.4432G>T
XR_244571.4:n.3952G>T
XR_430568.4:n.4286G>T
NM_001146706.2:c.3494G>T	NP_001140178.1:p.Trp1165Leu
NM_004653.5:c.3665G>T MANE Select	NP_004644.2:p.Trp1222Leu
NM_001146705.2:c.3758G>T	NP_001140177.1:p.Trp1253Leu