Canonical Allele Identifier: CA414844765

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869950C>A (hg19) ; chrY:g.19708064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708064C>A , CM000686.2:g.19708064C>A	GRCh38
NC_000024.9:g.21869950C>A , CM000686.1:g.21869950C>A	GRCh37
NC_000024.8:g.20329338C>A	NCBI36
NG_032920.1:g.41876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3269G>T MANE Select	ENSP00000322408.4:p.Cys1090Phe
ENST00000317961.8:c.3269G>T	ENSP00000322408.4:p.Cys1090Phe
ENST00000382806.6:c.3098G>T	ENSP00000372256.2:p.Cys1033Phe
ENST00000415360.1:c.185G>T	ENSP00000389433.1:p.Cys62Phe
ENST00000440077.5:c.3146G>T	ENSP00000398543.1:p.Cys1049Phe
ENST00000469599.6:n.1867G>T
ENST00000492117.1:n.3161G>T
ENST00000541639.5:c.3362G>T	ENSP00000444293.1:p.Cys1121Phe
NM_001146705.1:c.3362G>T	NP_001140177.1:p.Cys1121Phe
NM_001146706.1:c.3098G>T	NP_001140178.1:p.Cys1033Phe
NM_004653.4:c.3269G>T	NP_004644.2:p.Cys1090Phe
XM_005262560.1:c.3134G>T	XP_005262617.1:p.Cys1045Phe
XM_005262561.1:c.3038G>T	XP_005262618.1:p.Cys1013Phe
XM_011531468.1:c.3191G>T	XP_011529770.1:p.Cys1064Phe
XR_244571.2:n.3557G>T
XR_430568.2:n.3891G>T
XM_005262560.3:c.3134G>T	XP_005262617.1:p.Cys1045Phe
XM_005262561.3:c.3038G>T	XP_005262618.1:p.Cys1013Phe
XM_011531468.3:c.3191G>T	XP_011529770.1:p.Cys1064Phe
XM_024452495.1:c.1259G>T	XP_024308263.1:p.Cys420Phe
XM_024452496.1:c.1025G>T	XP_024308264.1:p.Cys342Phe
XR_001756009.2:n.4007G>T
XR_001756010.2:n.4007G>T
XR_001756011.2:n.3872G>T
XR_001756012.2:n.4020G>T
XR_001756013.2:n.3338G>T
XR_002958832.1:n.3439G>T
XR_002958834.1:n.3663G>T
XR_002958835.1:n.3546G>T
XR_002958836.1:n.4229G>T
XR_002958837.1:n.4036G>T
XR_244571.4:n.3556G>T
XR_430568.4:n.3890G>T
NM_001146706.2:c.3098G>T	NP_001140178.1:p.Cys1033Phe
NM_004653.5:c.3269G>T MANE Select	NP_004644.2:p.Cys1090Phe
NM_001146705.2:c.3362G>T	NP_001140177.1:p.Cys1121Phe