Canonical Allele Identifier: CA414843564

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3587T>G MANE Select	ENSP00000322408.4:p.Phe1196Cys
ENST00000317961.8:c.3587T>G	ENSP00000322408.4:p.Phe1196Cys
ENST00000382806.6:c.3416T>G	ENSP00000372256.2:p.Phe1139Cys
ENST00000415360.1:c.503T>G	ENSP00000389433.1:p.Phe168Cys
ENST00000440077.5:c.3464T>G	ENSP00000398543.1:p.Phe1155Cys
ENST00000469599.6:n.2185T>G
ENST00000492117.1:n.3479T>G
ENST00000541639.5:c.3680T>G	ENSP00000444293.1:p.Phe1227Cys
NM_001146705.1:c.3680T>G	NP_001140177.1:p.Phe1227Cys
NM_001146706.1:c.3416T>G	NP_001140178.1:p.Phe1139Cys
NM_004653.4:c.3587T>G	NP_004644.2:p.Phe1196Cys
XM_005262560.1:c.3452T>G	XP_005262617.1:p.Phe1151Cys
XM_005262561.1:c.3356T>G	XP_005262618.1:p.Phe1119Cys
XM_011531468.1:c.3509T>G	XP_011529770.1:p.Phe1170Cys
XR_244571.2:n.3875T>G
XR_430568.2:n.4209T>G
XM_005262560.3:c.3452T>G	XP_005262617.1:p.Phe1151Cys
XM_005262561.3:c.3356T>G	XP_005262618.1:p.Phe1119Cys
XM_011531468.3:c.3509T>G	XP_011529770.1:p.Phe1170Cys
XM_024452495.1:c.1577T>G	XP_024308263.1:p.Phe526Cys
XM_024452496.1:c.1343T>G	XP_024308264.1:p.Phe448Cys
XR_001756009.2:n.4325T>G
XR_001756010.2:n.4325T>G
XR_001756011.2:n.4190T>G
XR_001756012.2:n.4338T>G
XR_001756013.2:n.3656T>G
XR_002958832.1:n.3757T>G
XR_002958834.1:n.3981T>G
XR_002958835.1:n.3864T>G
XR_002958836.1:n.4547T>G
XR_002958837.1:n.4354T>G
XR_244571.4:n.3874T>G
XR_430568.4:n.4208T>G
NM_001146706.2:c.3416T>G	NP_001140178.1:p.Phe1139Cys
NM_004653.5:c.3587T>G MANE Select	NP_004644.2:p.Phe1196Cys
NM_001146705.2:c.3680T>G	NP_001140177.1:p.Phe1227Cys