Canonical Allele Identifier: CA414844111

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869604T>C (hg19) ; chrY:g.19707718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707718T>C , CM000686.2:g.19707718T>C	GRCh38
NC_000024.9:g.21869604T>C , CM000686.1:g.21869604T>C	GRCh37
NC_000024.8:g.20328992T>C	NCBI36
NG_032920.1:g.42222A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3428A>G MANE Select	ENSP00000322408.4:p.Lys1143Arg
ENST00000317961.8:c.3428A>G	ENSP00000322408.4:p.Lys1143Arg
ENST00000382806.6:c.3257A>G	ENSP00000372256.2:p.Lys1086Arg
ENST00000415360.1:c.344A>G	ENSP00000389433.1:p.Lys115Arg
ENST00000440077.5:c.3305A>G	ENSP00000398543.1:p.Lys1102Arg
ENST00000469599.6:n.2026A>G
ENST00000492117.1:n.3320A>G
ENST00000541639.5:c.3521A>G	ENSP00000444293.1:p.Lys1174Arg
NM_001146705.1:c.3521A>G	NP_001140177.1:p.Lys1174Arg
NM_001146706.1:c.3257A>G	NP_001140178.1:p.Lys1086Arg
NM_004653.4:c.3428A>G	NP_004644.2:p.Lys1143Arg
XM_005262560.1:c.3293A>G	XP_005262617.1:p.Lys1098Arg
XM_005262561.1:c.3197A>G	XP_005262618.1:p.Lys1066Arg
XM_011531468.1:c.3350A>G	XP_011529770.1:p.Lys1117Arg
XR_244571.2:n.3716A>G
XR_430568.2:n.4050A>G
XM_005262560.3:c.3293A>G	XP_005262617.1:p.Lys1098Arg
XM_005262561.3:c.3197A>G	XP_005262618.1:p.Lys1066Arg
XM_011531468.3:c.3350A>G	XP_011529770.1:p.Lys1117Arg
XM_024452495.1:c.1418A>G	XP_024308263.1:p.Lys473Arg
XM_024452496.1:c.1184A>G	XP_024308264.1:p.Lys395Arg
XR_001756009.2:n.4166A>G
XR_001756010.2:n.4166A>G
XR_001756011.2:n.4031A>G
XR_001756012.2:n.4179A>G
XR_001756013.2:n.3497A>G
XR_002958832.1:n.3598A>G
XR_002958834.1:n.3822A>G
XR_002958835.1:n.3705A>G
XR_002958836.1:n.4388A>G
XR_002958837.1:n.4195A>G
XR_244571.4:n.3715A>G
XR_430568.4:n.4049A>G
NM_001146706.2:c.3257A>G	NP_001140178.1:p.Lys1086Arg
NM_004653.5:c.3428A>G MANE Select	NP_004644.2:p.Lys1143Arg
NM_001146705.2:c.3521A>G	NP_001140177.1:p.Lys1174Arg