Canonical Allele Identifier: CA414844110

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3428A>T MANE Select	ENSP00000322408.4:p.Lys1143Met
ENST00000317961.8:c.3428A>T	ENSP00000322408.4:p.Lys1143Met
ENST00000382806.6:c.3257A>T	ENSP00000372256.2:p.Lys1086Met
ENST00000415360.1:c.344A>T	ENSP00000389433.1:p.Lys115Met
ENST00000440077.5:c.3305A>T	ENSP00000398543.1:p.Lys1102Met
ENST00000469599.6:n.2026A>T
ENST00000492117.1:n.3320A>T
ENST00000541639.5:c.3521A>T	ENSP00000444293.1:p.Lys1174Met
NM_001146705.1:c.3521A>T	NP_001140177.1:p.Lys1174Met
NM_001146706.1:c.3257A>T	NP_001140178.1:p.Lys1086Met
NM_004653.4:c.3428A>T	NP_004644.2:p.Lys1143Met
XM_005262560.1:c.3293A>T	XP_005262617.1:p.Lys1098Met
XM_005262561.1:c.3197A>T	XP_005262618.1:p.Lys1066Met
XM_011531468.1:c.3350A>T	XP_011529770.1:p.Lys1117Met
XR_244571.2:n.3716A>T
XR_430568.2:n.4050A>T
XM_005262560.3:c.3293A>T	XP_005262617.1:p.Lys1098Met
XM_005262561.3:c.3197A>T	XP_005262618.1:p.Lys1066Met
XM_011531468.3:c.3350A>T	XP_011529770.1:p.Lys1117Met
XM_024452495.1:c.1418A>T	XP_024308263.1:p.Lys473Met
XM_024452496.1:c.1184A>T	XP_024308264.1:p.Lys395Met
XR_001756009.2:n.4166A>T
XR_001756010.2:n.4166A>T
XR_001756011.2:n.4031A>T
XR_001756012.2:n.4179A>T
XR_001756013.2:n.3497A>T
XR_002958832.1:n.3598A>T
XR_002958834.1:n.3822A>T
XR_002958835.1:n.3705A>T
XR_002958836.1:n.4388A>T
XR_002958837.1:n.4195A>T
XR_244571.4:n.3715A>T
XR_430568.4:n.4049A>T
NM_001146706.2:c.3257A>T	NP_001140178.1:p.Lys1086Met
NM_004653.5:c.3428A>T MANE Select	NP_004644.2:p.Lys1143Met
NM_001146705.2:c.3521A>T	NP_001140177.1:p.Lys1174Met