Canonical Allele Identifier: CA414840134

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867987T>A (hg19) ; chrY:g.19706101T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706101T>A , CM000686.2:g.19706101T>A	GRCh38
NC_000024.9:g.21867987T>A , CM000686.1:g.21867987T>A	GRCh37
NC_000024.8:g.20327375T>A	NCBI36
NG_032920.1:g.43839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4514A>T MANE Select	ENSP00000322408.4:p.Lys1505Ile
ENST00000317961.8:c.4514A>T	ENSP00000322408.4:p.Lys1505Ile
ENST00000382806.6:c.4343A>T	ENSP00000372256.2:p.Lys1448Ile
ENST00000440077.5:c.4391A>T	ENSP00000398543.1:p.Lys1464Ile
ENST00000469599.6:n.3265A>T
ENST00000492117.1:n.4559A>T
ENST00000541639.5:c.4607A>T	ENSP00000444293.1:p.Lys1536Ile
NM_001146705.1:c.4607A>T	NP_001140177.1:p.Lys1536Ile
NM_001146706.1:c.4343A>T	NP_001140178.1:p.Lys1448Ile
NM_004653.4:c.4514A>T	NP_004644.2:p.Lys1505Ile
XM_005262560.1:c.4379A>T	XP_005262617.1:p.Lys1460Ile
XM_005262561.1:c.4283A>T	XP_005262618.1:p.Lys1428Ile
XM_011531468.1:c.4436A>T	XP_011529770.1:p.Lys1479Ile
XR_430568.2:n.5289A>T
XM_005262560.3:c.4379A>T	XP_005262617.1:p.Lys1460Ile
XM_005262561.3:c.4283A>T	XP_005262618.1:p.Lys1428Ile
XM_011531468.3:c.4436A>T	XP_011529770.1:p.Lys1479Ile
XM_024452495.1:c.2504A>T	XP_024308263.1:p.Lys835Ile
XM_024452496.1:c.2270A>T	XP_024308264.1:p.Lys757Ile
XR_001756009.2:n.5252A>T
XR_001756010.2:n.5220A>T
XR_001756011.2:n.5117A>T
XR_001756012.2:n.5265A>T
XR_001756013.2:n.4583A>T
XR_002958832.1:n.4837A>T
XR_002958834.1:n.4908A>T
XR_002958835.1:n.4791A>T
XR_002958836.1:n.5442A>T
XR_002958837.1:n.5249A>T
XR_244571.4:n.4769A>T
XR_430568.4:n.5288A>T
NM_001146706.2:c.4343A>T	NP_001140178.1:p.Lys1448Ile
NM_004653.5:c.4514A>T MANE Select	NP_004644.2:p.Lys1505Ile
NM_001146705.2:c.4607A>T	NP_001140177.1:p.Lys1536Ile