Canonical Allele Identifier: CA414843654

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869464C>A (hg19) ; chrY:g.19707578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707578C>A , CM000686.2:g.19707578C>A	GRCh38
NC_000024.9:g.21869464C>A , CM000686.1:g.21869464C>A	GRCh37
NC_000024.8:g.20328852C>A	NCBI36
NG_032920.1:g.42362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3568G>T MANE Select	ENSP00000322408.4:p.Asp1190Tyr
ENST00000317961.8:c.3568G>T	ENSP00000322408.4:p.Asp1190Tyr
ENST00000382806.6:c.3397G>T	ENSP00000372256.2:p.Asp1133Tyr
ENST00000415360.1:c.484G>T	ENSP00000389433.1:p.Asp162Tyr
ENST00000440077.5:c.3445G>T	ENSP00000398543.1:p.Asp1149Tyr
ENST00000469599.6:n.2166G>T
ENST00000492117.1:n.3460G>T
ENST00000541639.5:c.3661G>T	ENSP00000444293.1:p.Asp1221Tyr
NM_001146705.1:c.3661G>T	NP_001140177.1:p.Asp1221Tyr
NM_001146706.1:c.3397G>T	NP_001140178.1:p.Asp1133Tyr
NM_004653.4:c.3568G>T	NP_004644.2:p.Asp1190Tyr
XM_005262560.1:c.3433G>T	XP_005262617.1:p.Asp1145Tyr
XM_005262561.1:c.3337G>T	XP_005262618.1:p.Asp1113Tyr
XM_011531468.1:c.3490G>T	XP_011529770.1:p.Asp1164Tyr
XR_244571.2:n.3856G>T
XR_430568.2:n.4190G>T
XM_005262560.3:c.3433G>T	XP_005262617.1:p.Asp1145Tyr
XM_005262561.3:c.3337G>T	XP_005262618.1:p.Asp1113Tyr
XM_011531468.3:c.3490G>T	XP_011529770.1:p.Asp1164Tyr
XM_024452495.1:c.1558G>T	XP_024308263.1:p.Asp520Tyr
XM_024452496.1:c.1324G>T	XP_024308264.1:p.Asp442Tyr
XR_001756009.2:n.4306G>T
XR_001756010.2:n.4306G>T
XR_001756011.2:n.4171G>T
XR_001756012.2:n.4319G>T
XR_001756013.2:n.3637G>T
XR_002958832.1:n.3738G>T
XR_002958834.1:n.3962G>T
XR_002958835.1:n.3845G>T
XR_002958836.1:n.4528G>T
XR_002958837.1:n.4335G>T
XR_244571.4:n.3855G>T
XR_430568.4:n.4189G>T
NM_001146706.2:c.3397G>T	NP_001140178.1:p.Asp1133Tyr
NM_004653.5:c.3568G>T MANE Select	NP_004644.2:p.Asp1190Tyr
NM_001146705.2:c.3661G>T	NP_001140177.1:p.Asp1221Tyr