Canonical Allele Identifier: CA414843794

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869502C>T (hg19) ; chrY:g.19707616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707616C>T , CM000686.2:g.19707616C>T	GRCh38
NC_000024.9:g.21869502C>T , CM000686.1:g.21869502C>T	GRCh37
NC_000024.8:g.20328890C>T	NCBI36
NG_032920.1:g.42324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3530G>A MANE Select	ENSP00000322408.4:p.Cys1177Tyr
ENST00000317961.8:c.3530G>A	ENSP00000322408.4:p.Cys1177Tyr
ENST00000382806.6:c.3359G>A	ENSP00000372256.2:p.Cys1120Tyr
ENST00000415360.1:c.446G>A	ENSP00000389433.1:p.Cys149Tyr
ENST00000440077.5:c.3407G>A	ENSP00000398543.1:p.Cys1136Tyr
ENST00000469599.6:n.2128G>A
ENST00000492117.1:n.3422G>A
ENST00000541639.5:c.3623G>A	ENSP00000444293.1:p.Cys1208Tyr
NM_001146705.1:c.3623G>A	NP_001140177.1:p.Cys1208Tyr
NM_001146706.1:c.3359G>A	NP_001140178.1:p.Cys1120Tyr
NM_004653.4:c.3530G>A	NP_004644.2:p.Cys1177Tyr
XM_005262560.1:c.3395G>A	XP_005262617.1:p.Cys1132Tyr
XM_005262561.1:c.3299G>A	XP_005262618.1:p.Cys1100Tyr
XM_011531468.1:c.3452G>A	XP_011529770.1:p.Cys1151Tyr
XR_244571.2:n.3818G>A
XR_430568.2:n.4152G>A
XM_005262560.3:c.3395G>A	XP_005262617.1:p.Cys1132Tyr
XM_005262561.3:c.3299G>A	XP_005262618.1:p.Cys1100Tyr
XM_011531468.3:c.3452G>A	XP_011529770.1:p.Cys1151Tyr
XM_024452495.1:c.1520G>A	XP_024308263.1:p.Cys507Tyr
XM_024452496.1:c.1286G>A	XP_024308264.1:p.Cys429Tyr
XR_001756009.2:n.4268G>A
XR_001756010.2:n.4268G>A
XR_001756011.2:n.4133G>A
XR_001756012.2:n.4281G>A
XR_001756013.2:n.3599G>A
XR_002958832.1:n.3700G>A
XR_002958834.1:n.3924G>A
XR_002958835.1:n.3807G>A
XR_002958836.1:n.4490G>A
XR_002958837.1:n.4297G>A
XR_244571.4:n.3817G>A
XR_430568.4:n.4151G>A
NM_001146706.2:c.3359G>A	NP_001140178.1:p.Cys1120Tyr
NM_004653.5:c.3530G>A MANE Select	NP_004644.2:p.Cys1177Tyr
NM_001146705.2:c.3623G>A	NP_001140177.1:p.Cys1208Tyr