Canonical Allele Identifier: CA414844783

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869954G>A (hg19) ; chrY:g.19708068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708068G>A , CM000686.2:g.19708068G>A	GRCh38
NC_000024.9:g.21869954G>A , CM000686.1:g.21869954G>A	GRCh37
NC_000024.8:g.20329342G>A	NCBI36
NG_032920.1:g.41872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3265C>T MANE Select	ENSP00000322408.4:p.Leu1089Phe
ENST00000317961.8:c.3265C>T	ENSP00000322408.4:p.Leu1089Phe
ENST00000382806.6:c.3094C>T	ENSP00000372256.2:p.Leu1032Phe
ENST00000415360.1:c.181C>T	ENSP00000389433.1:p.Leu61Phe
ENST00000440077.5:c.3142C>T	ENSP00000398543.1:p.Leu1048Phe
ENST00000469599.6:n.1863C>T
ENST00000492117.1:n.3157C>T
ENST00000541639.5:c.3358C>T	ENSP00000444293.1:p.Leu1120Phe
NM_001146705.1:c.3358C>T	NP_001140177.1:p.Leu1120Phe
NM_001146706.1:c.3094C>T	NP_001140178.1:p.Leu1032Phe
NM_004653.4:c.3265C>T	NP_004644.2:p.Leu1089Phe
XM_005262560.1:c.3130C>T	XP_005262617.1:p.Leu1044Phe
XM_005262561.1:c.3034C>T	XP_005262618.1:p.Leu1012Phe
XM_011531468.1:c.3187C>T	XP_011529770.1:p.Leu1063Phe
XR_244571.2:n.3553C>T
XR_430568.2:n.3887C>T
XM_005262560.3:c.3130C>T	XP_005262617.1:p.Leu1044Phe
XM_005262561.3:c.3034C>T	XP_005262618.1:p.Leu1012Phe
XM_011531468.3:c.3187C>T	XP_011529770.1:p.Leu1063Phe
XM_024452495.1:c.1255C>T	XP_024308263.1:p.Leu419Phe
XM_024452496.1:c.1021C>T	XP_024308264.1:p.Leu341Phe
XR_001756009.2:n.4003C>T
XR_001756010.2:n.4003C>T
XR_001756011.2:n.3868C>T
XR_001756012.2:n.4016C>T
XR_001756013.2:n.3334C>T
XR_002958832.1:n.3435C>T
XR_002958834.1:n.3659C>T
XR_002958835.1:n.3542C>T
XR_002958836.1:n.4225C>T
XR_002958837.1:n.4032C>T
XR_244571.4:n.3552C>T
XR_430568.4:n.3886C>T
NM_001146706.2:c.3094C>T	NP_001140178.1:p.Leu1032Phe
NM_004653.5:c.3265C>T MANE Select	NP_004644.2:p.Leu1089Phe
NM_001146705.2:c.3358C>T	NP_001140177.1:p.Leu1120Phe