Canonical Allele Identifier: CA414843470

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869418T>A (hg19) ; chrY:g.19707532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707532T>A , CM000686.2:g.19707532T>A	GRCh38
NC_000024.9:g.21869418T>A , CM000686.1:g.21869418T>A	GRCh37
NC_000024.8:g.20328806T>A	NCBI36
NG_032920.1:g.42408A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3614A>T MANE Select	ENSP00000322408.4:p.His1205Leu
ENST00000317961.8:c.3614A>T	ENSP00000322408.4:p.His1205Leu
ENST00000382806.6:c.3443A>T	ENSP00000372256.2:p.His1148Leu
ENST00000415360.1:c.530A>T	ENSP00000389433.1:p.His177Leu
ENST00000440077.5:c.3491A>T	ENSP00000398543.1:p.His1164Leu
ENST00000469599.6:n.2212A>T
ENST00000492117.1:n.3506A>T
ENST00000541639.5:c.3707A>T	ENSP00000444293.1:p.His1236Leu
NM_001146705.1:c.3707A>T	NP_001140177.1:p.His1236Leu
NM_001146706.1:c.3443A>T	NP_001140178.1:p.His1148Leu
NM_004653.4:c.3614A>T	NP_004644.2:p.His1205Leu
XM_005262560.1:c.3479A>T	XP_005262617.1:p.His1160Leu
XM_005262561.1:c.3383A>T	XP_005262618.1:p.His1128Leu
XM_011531468.1:c.3536A>T	XP_011529770.1:p.His1179Leu
XR_244571.2:n.3902A>T
XR_430568.2:n.4236A>T
XM_005262560.3:c.3479A>T	XP_005262617.1:p.His1160Leu
XM_005262561.3:c.3383A>T	XP_005262618.1:p.His1128Leu
XM_011531468.3:c.3536A>T	XP_011529770.1:p.His1179Leu
XM_024452495.1:c.1604A>T	XP_024308263.1:p.His535Leu
XM_024452496.1:c.1370A>T	XP_024308264.1:p.His457Leu
XR_001756009.2:n.4352A>T
XR_001756010.2:n.4352A>T
XR_001756011.2:n.4217A>T
XR_001756012.2:n.4365A>T
XR_001756013.2:n.3683A>T
XR_002958832.1:n.3784A>T
XR_002958834.1:n.4008A>T
XR_002958835.1:n.3891A>T
XR_002958836.1:n.4574A>T
XR_002958837.1:n.4381A>T
XR_244571.4:n.3901A>T
XR_430568.4:n.4235A>T
NM_001146706.2:c.3443A>T	NP_001140178.1:p.His1148Leu
NM_004653.5:c.3614A>T MANE Select	NP_004644.2:p.His1205Leu
NM_001146705.2:c.3707A>T	NP_001140177.1:p.His1236Leu