Canonical Allele Identifier: CA414843261

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869359A>G (hg19) ; chrY:g.19707473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707473A>G , CM000686.2:g.19707473A>G	GRCh38
NC_000024.9:g.21869359A>G , CM000686.1:g.21869359A>G	GRCh37
NC_000024.8:g.20328747A>G	NCBI36
NG_032920.1:g.42467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3673T>C MANE Select	ENSP00000322408.4:p.Trp1225Arg
ENST00000317961.8:c.3673T>C	ENSP00000322408.4:p.Trp1225Arg
ENST00000382806.6:c.3502T>C	ENSP00000372256.2:p.Trp1168Arg
ENST00000415360.1:c.589T>C	ENSP00000389433.1:p.Trp197Arg
ENST00000440077.5:c.3550T>C	ENSP00000398543.1:p.Trp1184Arg
ENST00000469599.6:n.2271T>C
ENST00000492117.1:n.3565T>C
ENST00000541639.5:c.3766T>C	ENSP00000444293.1:p.Trp1256Arg
NM_001146705.1:c.3766T>C	NP_001140177.1:p.Trp1256Arg
NM_001146706.1:c.3502T>C	NP_001140178.1:p.Trp1168Arg
NM_004653.4:c.3673T>C	NP_004644.2:p.Trp1225Arg
XM_005262560.1:c.3538T>C	XP_005262617.1:p.Trp1180Arg
XM_005262561.1:c.3442T>C	XP_005262618.1:p.Trp1148Arg
XM_011531468.1:c.3595T>C	XP_011529770.1:p.Trp1199Arg
XR_244571.2:n.3961T>C
XR_430568.2:n.4295T>C
XM_005262560.3:c.3538T>C	XP_005262617.1:p.Trp1180Arg
XM_005262561.3:c.3442T>C	XP_005262618.1:p.Trp1148Arg
XM_011531468.3:c.3595T>C	XP_011529770.1:p.Trp1199Arg
XM_024452495.1:c.1663T>C	XP_024308263.1:p.Trp555Arg
XM_024452496.1:c.1429T>C	XP_024308264.1:p.Trp477Arg
XR_001756009.2:n.4411T>C
XR_001756010.2:n.4411T>C
XR_001756011.2:n.4276T>C
XR_001756012.2:n.4424T>C
XR_001756013.2:n.3742T>C
XR_002958832.1:n.3843T>C
XR_002958834.1:n.4067T>C
XR_002958835.1:n.3950T>C
XR_002958836.1:n.4633T>C
XR_002958837.1:n.4440T>C
XR_244571.4:n.3960T>C
XR_430568.4:n.4294T>C
NM_001146706.2:c.3502T>C	NP_001140178.1:p.Trp1168Arg
NM_004653.5:c.3673T>C MANE Select	NP_004644.2:p.Trp1225Arg
NM_001146705.2:c.3766T>C	NP_001140177.1:p.Trp1256Arg