Canonical Allele Identifier: CA414843815

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869508C>G (hg19) ; chrY:g.19707622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707622C>G , CM000686.2:g.19707622C>G	GRCh38
NC_000024.9:g.21869508C>G , CM000686.1:g.21869508C>G	GRCh37
NC_000024.8:g.20328896C>G	NCBI36
NG_032920.1:g.42318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3524G>C MANE Select	ENSP00000322408.4:p.Cys1175Ser
ENST00000317961.8:c.3524G>C	ENSP00000322408.4:p.Cys1175Ser
ENST00000382806.6:c.3353G>C	ENSP00000372256.2:p.Cys1118Ser
ENST00000415360.1:c.440G>C	ENSP00000389433.1:p.Cys147Ser
ENST00000440077.5:c.3401G>C	ENSP00000398543.1:p.Cys1134Ser
ENST00000469599.6:n.2122G>C
ENST00000492117.1:n.3416G>C
ENST00000541639.5:c.3617G>C	ENSP00000444293.1:p.Cys1206Ser
NM_001146705.1:c.3617G>C	NP_001140177.1:p.Cys1206Ser
NM_001146706.1:c.3353G>C	NP_001140178.1:p.Cys1118Ser
NM_004653.4:c.3524G>C	NP_004644.2:p.Cys1175Ser
XM_005262560.1:c.3389G>C	XP_005262617.1:p.Cys1130Ser
XM_005262561.1:c.3293G>C	XP_005262618.1:p.Cys1098Ser
XM_011531468.1:c.3446G>C	XP_011529770.1:p.Cys1149Ser
XR_244571.2:n.3812G>C
XR_430568.2:n.4146G>C
XM_005262560.3:c.3389G>C	XP_005262617.1:p.Cys1130Ser
XM_005262561.3:c.3293G>C	XP_005262618.1:p.Cys1098Ser
XM_011531468.3:c.3446G>C	XP_011529770.1:p.Cys1149Ser
XM_024452495.1:c.1514G>C	XP_024308263.1:p.Cys505Ser
XM_024452496.1:c.1280G>C	XP_024308264.1:p.Cys427Ser
XR_001756009.2:n.4262G>C
XR_001756010.2:n.4262G>C
XR_001756011.2:n.4127G>C
XR_001756012.2:n.4275G>C
XR_001756013.2:n.3593G>C
XR_002958832.1:n.3694G>C
XR_002958834.1:n.3918G>C
XR_002958835.1:n.3801G>C
XR_002958836.1:n.4484G>C
XR_002958837.1:n.4291G>C
XR_244571.4:n.3811G>C
XR_430568.4:n.4145G>C
NM_001146706.2:c.3353G>C	NP_001140178.1:p.Cys1118Ser
NM_004653.5:c.3524G>C MANE Select	NP_004644.2:p.Cys1175Ser
NM_001146705.2:c.3617G>C	NP_001140177.1:p.Cys1206Ser