Canonical Allele Identifier: CA414843774

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869496T>A (hg19) ; chrY:g.19707610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707610T>A , CM000686.2:g.19707610T>A	GRCh38
NC_000024.9:g.21869496T>A , CM000686.1:g.21869496T>A	GRCh37
NC_000024.8:g.20328884T>A	NCBI36
NG_032920.1:g.42330A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3536A>T MANE Select	ENSP00000322408.4:p.Gln1179Leu
ENST00000317961.8:c.3536A>T	ENSP00000322408.4:p.Gln1179Leu
ENST00000382806.6:c.3365A>T	ENSP00000372256.2:p.Gln1122Leu
ENST00000415360.1:c.452A>T	ENSP00000389433.1:p.Gln151Leu
ENST00000440077.5:c.3413A>T	ENSP00000398543.1:p.Gln1138Leu
ENST00000469599.6:n.2134A>T
ENST00000492117.1:n.3428A>T
ENST00000541639.5:c.3629A>T	ENSP00000444293.1:p.Gln1210Leu
NM_001146705.1:c.3629A>T	NP_001140177.1:p.Gln1210Leu
NM_001146706.1:c.3365A>T	NP_001140178.1:p.Gln1122Leu
NM_004653.4:c.3536A>T	NP_004644.2:p.Gln1179Leu
XM_005262560.1:c.3401A>T	XP_005262617.1:p.Gln1134Leu
XM_005262561.1:c.3305A>T	XP_005262618.1:p.Gln1102Leu
XM_011531468.1:c.3458A>T	XP_011529770.1:p.Gln1153Leu
XR_244571.2:n.3824A>T
XR_430568.2:n.4158A>T
XM_005262560.3:c.3401A>T	XP_005262617.1:p.Gln1134Leu
XM_005262561.3:c.3305A>T	XP_005262618.1:p.Gln1102Leu
XM_011531468.3:c.3458A>T	XP_011529770.1:p.Gln1153Leu
XM_024452495.1:c.1526A>T	XP_024308263.1:p.Gln509Leu
XM_024452496.1:c.1292A>T	XP_024308264.1:p.Gln431Leu
XR_001756009.2:n.4274A>T
XR_001756010.2:n.4274A>T
XR_001756011.2:n.4139A>T
XR_001756012.2:n.4287A>T
XR_001756013.2:n.3605A>T
XR_002958832.1:n.3706A>T
XR_002958834.1:n.3930A>T
XR_002958835.1:n.3813A>T
XR_002958836.1:n.4496A>T
XR_002958837.1:n.4303A>T
XR_244571.4:n.3823A>T
XR_430568.4:n.4157A>T
NM_001146706.2:c.3365A>T	NP_001140178.1:p.Gln1122Leu
NM_004653.5:c.3536A>T MANE Select	NP_004644.2:p.Gln1179Leu
NM_001146705.2:c.3629A>T	NP_001140177.1:p.Gln1210Leu