Canonical Allele Identifier: CA414843616

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869455G>T (hg19) ; chrY:g.19707569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707569G>T , CM000686.2:g.19707569G>T	GRCh38
NC_000024.9:g.21869455G>T , CM000686.1:g.21869455G>T	GRCh37
NC_000024.8:g.20328843G>T	NCBI36
NG_032920.1:g.42371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3577C>A MANE Select	ENSP00000322408.4:p.Gln1193Lys
ENST00000317961.8:c.3577C>A	ENSP00000322408.4:p.Gln1193Lys
ENST00000382806.6:c.3406C>A	ENSP00000372256.2:p.Gln1136Lys
ENST00000415360.1:c.493C>A	ENSP00000389433.1:p.Gln165Lys
ENST00000440077.5:c.3454C>A	ENSP00000398543.1:p.Gln1152Lys
ENST00000469599.6:n.2175C>A
ENST00000492117.1:n.3469C>A
ENST00000541639.5:c.3670C>A	ENSP00000444293.1:p.Gln1224Lys
NM_001146705.1:c.3670C>A	NP_001140177.1:p.Gln1224Lys
NM_001146706.1:c.3406C>A	NP_001140178.1:p.Gln1136Lys
NM_004653.4:c.3577C>A	NP_004644.2:p.Gln1193Lys
XM_005262560.1:c.3442C>A	XP_005262617.1:p.Gln1148Lys
XM_005262561.1:c.3346C>A	XP_005262618.1:p.Gln1116Lys
XM_011531468.1:c.3499C>A	XP_011529770.1:p.Gln1167Lys
XR_244571.2:n.3865C>A
XR_430568.2:n.4199C>A
XM_005262560.3:c.3442C>A	XP_005262617.1:p.Gln1148Lys
XM_005262561.3:c.3346C>A	XP_005262618.1:p.Gln1116Lys
XM_011531468.3:c.3499C>A	XP_011529770.1:p.Gln1167Lys
XM_024452495.1:c.1567C>A	XP_024308263.1:p.Gln523Lys
XM_024452496.1:c.1333C>A	XP_024308264.1:p.Gln445Lys
XR_001756009.2:n.4315C>A
XR_001756010.2:n.4315C>A
XR_001756011.2:n.4180C>A
XR_001756012.2:n.4328C>A
XR_001756013.2:n.3646C>A
XR_002958832.1:n.3747C>A
XR_002958834.1:n.3971C>A
XR_002958835.1:n.3854C>A
XR_002958836.1:n.4537C>A
XR_002958837.1:n.4344C>A
XR_244571.4:n.3864C>A
XR_430568.4:n.4198C>A
NM_001146706.2:c.3406C>A	NP_001140178.1:p.Gln1136Lys
NM_004653.5:c.3577C>A MANE Select	NP_004644.2:p.Gln1193Lys
NM_001146705.2:c.3670C>A	NP_001140177.1:p.Gln1224Lys