Canonical Allele Identifier: CA414843140

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869325C>A (hg19) ; chrY:g.19707439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707439C>A , CM000686.2:g.19707439C>A	GRCh38
NC_000024.9:g.21869325C>A , CM000686.1:g.21869325C>A	GRCh37
NC_000024.8:g.20328713C>A	NCBI36
NG_032920.1:g.42501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3707G>T MANE Select	ENSP00000322408.4:p.Arg1236Leu
ENST00000317961.8:c.3707G>T	ENSP00000322408.4:p.Arg1236Leu
ENST00000382806.6:c.3536G>T	ENSP00000372256.2:p.Arg1179Leu
ENST00000415360.1:c.623G>T	ENSP00000389433.1:p.Arg208Leu
ENST00000440077.5:c.3584G>T	ENSP00000398543.1:p.Arg1195Leu
ENST00000469599.6:n.2305G>T
ENST00000492117.1:n.3599G>T
ENST00000541639.5:c.3800G>T	ENSP00000444293.1:p.Arg1267Leu
NM_001146705.1:c.3800G>T	NP_001140177.1:p.Arg1267Leu
NM_001146706.1:c.3536G>T	NP_001140178.1:p.Arg1179Leu
NM_004653.4:c.3707G>T	NP_004644.2:p.Arg1236Leu
XM_005262560.1:c.3572G>T	XP_005262617.1:p.Arg1191Leu
XM_005262561.1:c.3476G>T	XP_005262618.1:p.Arg1159Leu
XM_011531468.1:c.3629G>T	XP_011529770.1:p.Arg1210Leu
XR_244571.2:n.3995G>T
XR_430568.2:n.4329G>T
XM_005262560.3:c.3572G>T	XP_005262617.1:p.Arg1191Leu
XM_005262561.3:c.3476G>T	XP_005262618.1:p.Arg1159Leu
XM_011531468.3:c.3629G>T	XP_011529770.1:p.Arg1210Leu
XM_024452495.1:c.1697G>T	XP_024308263.1:p.Arg566Leu
XM_024452496.1:c.1463G>T	XP_024308264.1:p.Arg488Leu
XR_001756009.2:n.4445G>T
XR_001756010.2:n.4445G>T
XR_001756011.2:n.4310G>T
XR_001756012.2:n.4458G>T
XR_001756013.2:n.3776G>T
XR_002958832.1:n.3877G>T
XR_002958834.1:n.4101G>T
XR_002958835.1:n.3984G>T
XR_002958836.1:n.4667G>T
XR_002958837.1:n.4474G>T
XR_244571.4:n.3994G>T
XR_430568.4:n.4328G>T
NM_001146706.2:c.3536G>T	NP_001140178.1:p.Arg1179Leu
NM_004653.5:c.3707G>T MANE Select	NP_004644.2:p.Arg1236Leu
NM_001146705.2:c.3800G>T	NP_001140177.1:p.Arg1267Leu