Canonical Allele Identifier: CA414843582

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869448C>A (hg19) ; chrY:g.19707562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707562C>A , CM000686.2:g.19707562C>A	GRCh38
NC_000024.9:g.21869448C>A , CM000686.1:g.21869448C>A	GRCh37
NC_000024.8:g.20328836C>A	NCBI36
NG_032920.1:g.42378G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3584G>T MANE Select	ENSP00000322408.4:p.Trp1195Leu
ENST00000317961.8:c.3584G>T	ENSP00000322408.4:p.Trp1195Leu
ENST00000382806.6:c.3413G>T	ENSP00000372256.2:p.Trp1138Leu
ENST00000415360.1:c.500G>T	ENSP00000389433.1:p.Trp167Leu
ENST00000440077.5:c.3461G>T	ENSP00000398543.1:p.Trp1154Leu
ENST00000469599.6:n.2182G>T
ENST00000492117.1:n.3476G>T
ENST00000541639.5:c.3677G>T	ENSP00000444293.1:p.Trp1226Leu
NM_001146705.1:c.3677G>T	NP_001140177.1:p.Trp1226Leu
NM_001146706.1:c.3413G>T	NP_001140178.1:p.Trp1138Leu
NM_004653.4:c.3584G>T	NP_004644.2:p.Trp1195Leu
XM_005262560.1:c.3449G>T	XP_005262617.1:p.Trp1150Leu
XM_005262561.1:c.3353G>T	XP_005262618.1:p.Trp1118Leu
XM_011531468.1:c.3506G>T	XP_011529770.1:p.Trp1169Leu
XR_244571.2:n.3872G>T
XR_430568.2:n.4206G>T
XM_005262560.3:c.3449G>T	XP_005262617.1:p.Trp1150Leu
XM_005262561.3:c.3353G>T	XP_005262618.1:p.Trp1118Leu
XM_011531468.3:c.3506G>T	XP_011529770.1:p.Trp1169Leu
XM_024452495.1:c.1574G>T	XP_024308263.1:p.Trp525Leu
XM_024452496.1:c.1340G>T	XP_024308264.1:p.Trp447Leu
XR_001756009.2:n.4322G>T
XR_001756010.2:n.4322G>T
XR_001756011.2:n.4187G>T
XR_001756012.2:n.4335G>T
XR_001756013.2:n.3653G>T
XR_002958832.1:n.3754G>T
XR_002958834.1:n.3978G>T
XR_002958835.1:n.3861G>T
XR_002958836.1:n.4544G>T
XR_002958837.1:n.4351G>T
XR_244571.4:n.3871G>T
XR_430568.4:n.4205G>T
NM_001146706.2:c.3413G>T	NP_001140178.1:p.Trp1138Leu
NM_004653.5:c.3584G>T MANE Select	NP_004644.2:p.Trp1195Leu
NM_001146705.2:c.3677G>T	NP_001140177.1:p.Trp1226Leu