Canonical Allele Identifier: CA414843122

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869319C>A (hg19) ; chrY:g.19707433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707433C>A , CM000686.2:g.19707433C>A	GRCh38
NC_000024.9:g.21869319C>A , CM000686.1:g.21869319C>A	GRCh37
NC_000024.8:g.20328707C>A	NCBI36
NG_032920.1:g.42507G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3713G>T MANE Select	ENSP00000322408.4:p.Arg1238Leu
ENST00000317961.8:c.3713G>T	ENSP00000322408.4:p.Arg1238Leu
ENST00000382806.6:c.3542G>T	ENSP00000372256.2:p.Arg1181Leu
ENST00000415360.1:c.629G>T	ENSP00000389433.1:p.Arg210Leu
ENST00000440077.5:c.3590G>T	ENSP00000398543.1:p.Arg1197Leu
ENST00000469599.6:n.2311G>T
ENST00000492117.1:n.3605G>T
ENST00000541639.5:c.3806G>T	ENSP00000444293.1:p.Arg1269Leu
NM_001146705.1:c.3806G>T	NP_001140177.1:p.Arg1269Leu
NM_001146706.1:c.3542G>T	NP_001140178.1:p.Arg1181Leu
NM_004653.4:c.3713G>T	NP_004644.2:p.Arg1238Leu
XM_005262560.1:c.3578G>T	XP_005262617.1:p.Arg1193Leu
XM_005262561.1:c.3482G>T	XP_005262618.1:p.Arg1161Leu
XM_011531468.1:c.3635G>T	XP_011529770.1:p.Arg1212Leu
XR_244571.2:n.4001G>T
XR_430568.2:n.4335G>T
XM_005262560.3:c.3578G>T	XP_005262617.1:p.Arg1193Leu
XM_005262561.3:c.3482G>T	XP_005262618.1:p.Arg1161Leu
XM_011531468.3:c.3635G>T	XP_011529770.1:p.Arg1212Leu
XM_024452495.1:c.1703G>T	XP_024308263.1:p.Arg568Leu
XM_024452496.1:c.1469G>T	XP_024308264.1:p.Arg490Leu
XR_001756009.2:n.4451G>T
XR_001756010.2:n.4451G>T
XR_001756011.2:n.4316G>T
XR_001756012.2:n.4464G>T
XR_001756013.2:n.3782G>T
XR_002958832.1:n.3883G>T
XR_002958834.1:n.4107G>T
XR_002958835.1:n.3990G>T
XR_002958836.1:n.4673G>T
XR_002958837.1:n.4480G>T
XR_244571.4:n.4000G>T
XR_430568.4:n.4334G>T
NM_001146706.2:c.3542G>T	NP_001140178.1:p.Arg1181Leu
NM_004653.5:c.3713G>T MANE Select	NP_004644.2:p.Arg1238Leu
NM_001146705.2:c.3806G>T	NP_001140177.1:p.Arg1269Leu