Canonical Allele Identifier: CA414843567

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869445A>T (hg19) ; chrY:g.19707559A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707559A>T , CM000686.2:g.19707559A>T	GRCh38
NC_000024.9:g.21869445A>T , CM000686.1:g.21869445A>T	GRCh37
NC_000024.8:g.20328833A>T	NCBI36
NG_032920.1:g.42381T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3587T>A MANE Select	ENSP00000322408.4:p.Phe1196Tyr
ENST00000317961.8:c.3587T>A	ENSP00000322408.4:p.Phe1196Tyr
ENST00000382806.6:c.3416T>A	ENSP00000372256.2:p.Phe1139Tyr
ENST00000415360.1:c.503T>A	ENSP00000389433.1:p.Phe168Tyr
ENST00000440077.5:c.3464T>A	ENSP00000398543.1:p.Phe1155Tyr
ENST00000469599.6:n.2185T>A
ENST00000492117.1:n.3479T>A
ENST00000541639.5:c.3680T>A	ENSP00000444293.1:p.Phe1227Tyr
NM_001146705.1:c.3680T>A	NP_001140177.1:p.Phe1227Tyr
NM_001146706.1:c.3416T>A	NP_001140178.1:p.Phe1139Tyr
NM_004653.4:c.3587T>A	NP_004644.2:p.Phe1196Tyr
XM_005262560.1:c.3452T>A	XP_005262617.1:p.Phe1151Tyr
XM_005262561.1:c.3356T>A	XP_005262618.1:p.Phe1119Tyr
XM_011531468.1:c.3509T>A	XP_011529770.1:p.Phe1170Tyr
XR_244571.2:n.3875T>A
XR_430568.2:n.4209T>A
XM_005262560.3:c.3452T>A	XP_005262617.1:p.Phe1151Tyr
XM_005262561.3:c.3356T>A	XP_005262618.1:p.Phe1119Tyr
XM_011531468.3:c.3509T>A	XP_011529770.1:p.Phe1170Tyr
XM_024452495.1:c.1577T>A	XP_024308263.1:p.Phe526Tyr
XM_024452496.1:c.1343T>A	XP_024308264.1:p.Phe448Tyr
XR_001756009.2:n.4325T>A
XR_001756010.2:n.4325T>A
XR_001756011.2:n.4190T>A
XR_001756012.2:n.4338T>A
XR_001756013.2:n.3656T>A
XR_002958832.1:n.3757T>A
XR_002958834.1:n.3981T>A
XR_002958835.1:n.3864T>A
XR_002958836.1:n.4547T>A
XR_002958837.1:n.4354T>A
XR_244571.4:n.3874T>A
XR_430568.4:n.4208T>A
NM_001146706.2:c.3416T>A	NP_001140178.1:p.Phe1139Tyr
NM_004653.5:c.3587T>A MANE Select	NP_004644.2:p.Phe1196Tyr
NM_001146705.2:c.3680T>A	NP_001140177.1:p.Phe1227Tyr