Canonical Allele Identifier: CA414843977

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869556G>A (hg19) ; chrY:g.19707670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707670G>A , CM000686.2:g.19707670G>A	GRCh38
NC_000024.9:g.21869556G>A , CM000686.1:g.21869556G>A	GRCh37
NC_000024.8:g.20328944G>A	NCBI36
NG_032920.1:g.42270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3476C>T MANE Select	ENSP00000322408.4:p.Pro1159Leu
ENST00000317961.8:c.3476C>T	ENSP00000322408.4:p.Pro1159Leu
ENST00000382806.6:c.3305C>T	ENSP00000372256.2:p.Pro1102Leu
ENST00000415360.1:c.392C>T	ENSP00000389433.1:p.Pro131Leu
ENST00000440077.5:c.3353C>T	ENSP00000398543.1:p.Pro1118Leu
ENST00000469599.6:n.2074C>T
ENST00000492117.1:n.3368C>T
ENST00000541639.5:c.3569C>T	ENSP00000444293.1:p.Pro1190Leu
NM_001146705.1:c.3569C>T	NP_001140177.1:p.Pro1190Leu
NM_001146706.1:c.3305C>T	NP_001140178.1:p.Pro1102Leu
NM_004653.4:c.3476C>T	NP_004644.2:p.Pro1159Leu
XM_005262560.1:c.3341C>T	XP_005262617.1:p.Pro1114Leu
XM_005262561.1:c.3245C>T	XP_005262618.1:p.Pro1082Leu
XM_011531468.1:c.3398C>T	XP_011529770.1:p.Pro1133Leu
XR_244571.2:n.3764C>T
XR_430568.2:n.4098C>T
XM_005262560.3:c.3341C>T	XP_005262617.1:p.Pro1114Leu
XM_005262561.3:c.3245C>T	XP_005262618.1:p.Pro1082Leu
XM_011531468.3:c.3398C>T	XP_011529770.1:p.Pro1133Leu
XM_024452495.1:c.1466C>T	XP_024308263.1:p.Pro489Leu
XM_024452496.1:c.1232C>T	XP_024308264.1:p.Pro411Leu
XR_001756009.2:n.4214C>T
XR_001756010.2:n.4214C>T
XR_001756011.2:n.4079C>T
XR_001756012.2:n.4227C>T
XR_001756013.2:n.3545C>T
XR_002958832.1:n.3646C>T
XR_002958834.1:n.3870C>T
XR_002958835.1:n.3753C>T
XR_002958836.1:n.4436C>T
XR_002958837.1:n.4243C>T
XR_244571.4:n.3763C>T
XR_430568.4:n.4097C>T
NM_001146706.2:c.3305C>T	NP_001140178.1:p.Pro1102Leu
NM_004653.5:c.3476C>T MANE Select	NP_004644.2:p.Pro1159Leu
NM_001146705.2:c.3569C>T	NP_001140177.1:p.Pro1190Leu