Canonical Allele Identifier: CA414844742

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869944C>T (hg19) ; chrY:g.19708058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708058C>T , CM000686.2:g.19708058C>T	GRCh38
NC_000024.9:g.21869944C>T , CM000686.1:g.21869944C>T	GRCh37
NC_000024.8:g.20329332C>T	NCBI36
NG_032920.1:g.41882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3275G>A MANE Select	ENSP00000322408.4:p.Cys1092Tyr
ENST00000317961.8:c.3275G>A	ENSP00000322408.4:p.Cys1092Tyr
ENST00000382806.6:c.3104G>A	ENSP00000372256.2:p.Cys1035Tyr
ENST00000415360.1:c.191G>A	ENSP00000389433.1:p.Cys64Tyr
ENST00000440077.5:c.3152G>A	ENSP00000398543.1:p.Cys1051Tyr
ENST00000469599.6:n.1873G>A
ENST00000492117.1:n.3167G>A
ENST00000541639.5:c.3368G>A	ENSP00000444293.1:p.Cys1123Tyr
NM_001146705.1:c.3368G>A	NP_001140177.1:p.Cys1123Tyr
NM_001146706.1:c.3104G>A	NP_001140178.1:p.Cys1035Tyr
NM_004653.4:c.3275G>A	NP_004644.2:p.Cys1092Tyr
XM_005262560.1:c.3140G>A	XP_005262617.1:p.Cys1047Tyr
XM_005262561.1:c.3044G>A	XP_005262618.1:p.Cys1015Tyr
XM_011531468.1:c.3197G>A	XP_011529770.1:p.Cys1066Tyr
XR_244571.2:n.3563G>A
XR_430568.2:n.3897G>A
XM_005262560.3:c.3140G>A	XP_005262617.1:p.Cys1047Tyr
XM_005262561.3:c.3044G>A	XP_005262618.1:p.Cys1015Tyr
XM_011531468.3:c.3197G>A	XP_011529770.1:p.Cys1066Tyr
XM_024452495.1:c.1265G>A	XP_024308263.1:p.Cys422Tyr
XM_024452496.1:c.1031G>A	XP_024308264.1:p.Cys344Tyr
XR_001756009.2:n.4013G>A
XR_001756010.2:n.4013G>A
XR_001756011.2:n.3878G>A
XR_001756012.2:n.4026G>A
XR_001756013.2:n.3344G>A
XR_002958832.1:n.3445G>A
XR_002958834.1:n.3669G>A
XR_002958835.1:n.3552G>A
XR_002958836.1:n.4235G>A
XR_002958837.1:n.4042G>A
XR_244571.4:n.3562G>A
XR_430568.4:n.3896G>A
NM_001146706.2:c.3104G>A	NP_001140178.1:p.Cys1035Tyr
NM_004653.5:c.3275G>A MANE Select	NP_004644.2:p.Cys1092Tyr
NM_001146705.2:c.3368G>A	NP_001140177.1:p.Cys1123Tyr