Canonical Allele Identifier: CA414843225

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3683A>G MANE Select	ENSP00000322408.4:p.Lys1228Arg
ENST00000317961.8:c.3683A>G	ENSP00000322408.4:p.Lys1228Arg
ENST00000382806.6:c.3512A>G	ENSP00000372256.2:p.Lys1171Arg
ENST00000415360.1:c.599A>G	ENSP00000389433.1:p.Lys200Arg
ENST00000440077.5:c.3560A>G	ENSP00000398543.1:p.Lys1187Arg
ENST00000469599.6:n.2281A>G
ENST00000492117.1:n.3575A>G
ENST00000541639.5:c.3776A>G	ENSP00000444293.1:p.Lys1259Arg
NM_001146705.1:c.3776A>G	NP_001140177.1:p.Lys1259Arg
NM_001146706.1:c.3512A>G	NP_001140178.1:p.Lys1171Arg
NM_004653.4:c.3683A>G	NP_004644.2:p.Lys1228Arg
XM_005262560.1:c.3548A>G	XP_005262617.1:p.Lys1183Arg
XM_005262561.1:c.3452A>G	XP_005262618.1:p.Lys1151Arg
XM_011531468.1:c.3605A>G	XP_011529770.1:p.Lys1202Arg
XR_244571.2:n.3971A>G
XR_430568.2:n.4305A>G
XM_005262560.3:c.3548A>G	XP_005262617.1:p.Lys1183Arg
XM_005262561.3:c.3452A>G	XP_005262618.1:p.Lys1151Arg
XM_011531468.3:c.3605A>G	XP_011529770.1:p.Lys1202Arg
XM_024452495.1:c.1673A>G	XP_024308263.1:p.Lys558Arg
XM_024452496.1:c.1439A>G	XP_024308264.1:p.Lys480Arg
XR_001756009.2:n.4421A>G
XR_001756010.2:n.4421A>G
XR_001756011.2:n.4286A>G
XR_001756012.2:n.4434A>G
XR_001756013.2:n.3752A>G
XR_002958832.1:n.3853A>G
XR_002958834.1:n.4077A>G
XR_002958835.1:n.3960A>G
XR_002958836.1:n.4643A>G
XR_002958837.1:n.4450A>G
XR_244571.4:n.3970A>G
XR_430568.4:n.4304A>G
NM_001146706.2:c.3512A>G	NP_001140178.1:p.Lys1171Arg
NM_004653.5:c.3683A>G MANE Select	NP_004644.2:p.Lys1228Arg
NM_001146705.2:c.3776A>G	NP_001140177.1:p.Lys1259Arg