Canonical Allele Identifier: CA414843128

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869320G>C (hg19) ; chrY:g.19707434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707434G>C , CM000686.2:g.19707434G>C	GRCh38
NC_000024.9:g.21869320G>C , CM000686.1:g.21869320G>C	GRCh37
NC_000024.8:g.20328708G>C	NCBI36
NG_032920.1:g.42506C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3712C>G MANE Select	ENSP00000322408.4:p.Arg1238Gly
ENST00000317961.8:c.3712C>G	ENSP00000322408.4:p.Arg1238Gly
ENST00000382806.6:c.3541C>G	ENSP00000372256.2:p.Arg1181Gly
ENST00000415360.1:c.628C>G	ENSP00000389433.1:p.Arg210Gly
ENST00000440077.5:c.3589C>G	ENSP00000398543.1:p.Arg1197Gly
ENST00000469599.6:n.2310C>G
ENST00000492117.1:n.3604C>G
ENST00000541639.5:c.3805C>G	ENSP00000444293.1:p.Arg1269Gly
NM_001146705.1:c.3805C>G	NP_001140177.1:p.Arg1269Gly
NM_001146706.1:c.3541C>G	NP_001140178.1:p.Arg1181Gly
NM_004653.4:c.3712C>G	NP_004644.2:p.Arg1238Gly
XM_005262560.1:c.3577C>G	XP_005262617.1:p.Arg1193Gly
XM_005262561.1:c.3481C>G	XP_005262618.1:p.Arg1161Gly
XM_011531468.1:c.3634C>G	XP_011529770.1:p.Arg1212Gly
XR_244571.2:n.4000C>G
XR_430568.2:n.4334C>G
XM_005262560.3:c.3577C>G	XP_005262617.1:p.Arg1193Gly
XM_005262561.3:c.3481C>G	XP_005262618.1:p.Arg1161Gly
XM_011531468.3:c.3634C>G	XP_011529770.1:p.Arg1212Gly
XM_024452495.1:c.1702C>G	XP_024308263.1:p.Arg568Gly
XM_024452496.1:c.1468C>G	XP_024308264.1:p.Arg490Gly
XR_001756009.2:n.4450C>G
XR_001756010.2:n.4450C>G
XR_001756011.2:n.4315C>G
XR_001756012.2:n.4463C>G
XR_001756013.2:n.3781C>G
XR_002958832.1:n.3882C>G
XR_002958834.1:n.4106C>G
XR_002958835.1:n.3989C>G
XR_002958836.1:n.4672C>G
XR_002958837.1:n.4479C>G
XR_244571.4:n.3999C>G
XR_430568.4:n.4333C>G
NM_001146706.2:c.3541C>G	NP_001140178.1:p.Arg1181Gly
NM_004653.5:c.3712C>G MANE Select	NP_004644.2:p.Arg1238Gly
NM_001146705.2:c.3805C>G	NP_001140177.1:p.Arg1269Gly