Canonical Allele Identifier: CA414844780

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869953A>C (hg19) ; chrY:g.19708067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708067A>C , CM000686.2:g.19708067A>C	GRCh38
NC_000024.9:g.21869953A>C , CM000686.1:g.21869953A>C	GRCh37
NC_000024.8:g.20329341A>C	NCBI36
NG_032920.1:g.41873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3266T>G MANE Select	ENSP00000322408.4:p.Leu1089Arg
ENST00000317961.8:c.3266T>G	ENSP00000322408.4:p.Leu1089Arg
ENST00000382806.6:c.3095T>G	ENSP00000372256.2:p.Leu1032Arg
ENST00000415360.1:c.182T>G	ENSP00000389433.1:p.Leu61Arg
ENST00000440077.5:c.3143T>G	ENSP00000398543.1:p.Leu1048Arg
ENST00000469599.6:n.1864T>G
ENST00000492117.1:n.3158T>G
ENST00000541639.5:c.3359T>G	ENSP00000444293.1:p.Leu1120Arg
NM_001146705.1:c.3359T>G	NP_001140177.1:p.Leu1120Arg
NM_001146706.1:c.3095T>G	NP_001140178.1:p.Leu1032Arg
NM_004653.4:c.3266T>G	NP_004644.2:p.Leu1089Arg
XM_005262560.1:c.3131T>G	XP_005262617.1:p.Leu1044Arg
XM_005262561.1:c.3035T>G	XP_005262618.1:p.Leu1012Arg
XM_011531468.1:c.3188T>G	XP_011529770.1:p.Leu1063Arg
XR_244571.2:n.3554T>G
XR_430568.2:n.3888T>G
XM_005262560.3:c.3131T>G	XP_005262617.1:p.Leu1044Arg
XM_005262561.3:c.3035T>G	XP_005262618.1:p.Leu1012Arg
XM_011531468.3:c.3188T>G	XP_011529770.1:p.Leu1063Arg
XM_024452495.1:c.1256T>G	XP_024308263.1:p.Leu419Arg
XM_024452496.1:c.1022T>G	XP_024308264.1:p.Leu341Arg
XR_001756009.2:n.4004T>G
XR_001756010.2:n.4004T>G
XR_001756011.2:n.3869T>G
XR_001756012.2:n.4017T>G
XR_001756013.2:n.3335T>G
XR_002958832.1:n.3436T>G
XR_002958834.1:n.3660T>G
XR_002958835.1:n.3543T>G
XR_002958836.1:n.4226T>G
XR_002958837.1:n.4033T>G
XR_244571.4:n.3553T>G
XR_430568.4:n.3887T>G
NM_001146706.2:c.3095T>G	NP_001140178.1:p.Leu1032Arg
NM_004653.5:c.3266T>G MANE Select	NP_004644.2:p.Leu1089Arg
NM_001146705.2:c.3359T>G	NP_001140177.1:p.Leu1120Arg