Canonical Allele Identifier: CA414843224

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869349T>A (hg19) ; chrY:g.19707463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707463T>A , CM000686.2:g.19707463T>A	GRCh38
NC_000024.9:g.21869349T>A , CM000686.1:g.21869349T>A	GRCh37
NC_000024.8:g.20328737T>A	NCBI36
NG_032920.1:g.42477A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3683A>T MANE Select	ENSP00000322408.4:p.Lys1228Ile
ENST00000317961.8:c.3683A>T	ENSP00000322408.4:p.Lys1228Ile
ENST00000382806.6:c.3512A>T	ENSP00000372256.2:p.Lys1171Ile
ENST00000415360.1:c.599A>T	ENSP00000389433.1:p.Lys200Ile
ENST00000440077.5:c.3560A>T	ENSP00000398543.1:p.Lys1187Ile
ENST00000469599.6:n.2281A>T
ENST00000492117.1:n.3575A>T
ENST00000541639.5:c.3776A>T	ENSP00000444293.1:p.Lys1259Ile
NM_001146705.1:c.3776A>T	NP_001140177.1:p.Lys1259Ile
NM_001146706.1:c.3512A>T	NP_001140178.1:p.Lys1171Ile
NM_004653.4:c.3683A>T	NP_004644.2:p.Lys1228Ile
XM_005262560.1:c.3548A>T	XP_005262617.1:p.Lys1183Ile
XM_005262561.1:c.3452A>T	XP_005262618.1:p.Lys1151Ile
XM_011531468.1:c.3605A>T	XP_011529770.1:p.Lys1202Ile
XR_244571.2:n.3971A>T
XR_430568.2:n.4305A>T
XM_005262560.3:c.3548A>T	XP_005262617.1:p.Lys1183Ile
XM_005262561.3:c.3452A>T	XP_005262618.1:p.Lys1151Ile
XM_011531468.3:c.3605A>T	XP_011529770.1:p.Lys1202Ile
XM_024452495.1:c.1673A>T	XP_024308263.1:p.Lys558Ile
XM_024452496.1:c.1439A>T	XP_024308264.1:p.Lys480Ile
XR_001756009.2:n.4421A>T
XR_001756010.2:n.4421A>T
XR_001756011.2:n.4286A>T
XR_001756012.2:n.4434A>T
XR_001756013.2:n.3752A>T
XR_002958832.1:n.3853A>T
XR_002958834.1:n.4077A>T
XR_002958835.1:n.3960A>T
XR_002958836.1:n.4643A>T
XR_002958837.1:n.4450A>T
XR_244571.4:n.3970A>T
XR_430568.4:n.4304A>T
NM_001146706.2:c.3512A>T	NP_001140178.1:p.Lys1171Ile
NM_004653.5:c.3683A>T MANE Select	NP_004644.2:p.Lys1228Ile
NM_001146705.2:c.3776A>T	NP_001140177.1:p.Lys1259Ile