Canonical Allele Identifier: CA414840078

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867973T>A (hg19) ; chrY:g.19706087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706087T>A , CM000686.2:g.19706087T>A	GRCh38
NC_000024.9:g.21867973T>A , CM000686.1:g.21867973T>A	GRCh37
NC_000024.8:g.20327361T>A	NCBI36
NG_032920.1:g.43853A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4528A>T MANE Select	ENSP00000322408.4:p.Ser1510Cys
ENST00000317961.8:c.4528A>T	ENSP00000322408.4:p.Ser1510Cys
ENST00000382806.6:c.4357A>T	ENSP00000372256.2:p.Ser1453Cys
ENST00000440077.5:c.4405A>T	ENSP00000398543.1:p.Ser1469Cys
ENST00000469599.6:n.3279A>T
ENST00000492117.1:n.4573A>T
ENST00000541639.5:c.4621A>T	ENSP00000444293.1:p.Ser1541Cys
NM_001146705.1:c.4621A>T	NP_001140177.1:p.Ser1541Cys
NM_001146706.1:c.4357A>T	NP_001140178.1:p.Ser1453Cys
NM_004653.4:c.4528A>T	NP_004644.2:p.Ser1510Cys
XM_005262560.1:c.4393A>T	XP_005262617.1:p.Ser1465Cys
XM_005262561.1:c.4297A>T	XP_005262618.1:p.Ser1433Cys
XM_011531468.1:c.4450A>T	XP_011529770.1:p.Ser1484Cys
XR_430568.2:n.5303A>T
XM_005262560.3:c.4393A>T	XP_005262617.1:p.Ser1465Cys
XM_005262561.3:c.4297A>T	XP_005262618.1:p.Ser1433Cys
XM_011531468.3:c.4450A>T	XP_011529770.1:p.Ser1484Cys
XM_024452495.1:c.2518A>T	XP_024308263.1:p.Ser840Cys
XM_024452496.1:c.2284A>T	XP_024308264.1:p.Ser762Cys
XR_001756009.2:n.5266A>T
XR_001756010.2:n.5234A>T
XR_001756011.2:n.5131A>T
XR_001756012.2:n.5279A>T
XR_001756013.2:n.4597A>T
XR_002958832.1:n.4851A>T
XR_002958834.1:n.4922A>T
XR_002958835.1:n.4805A>T
XR_002958836.1:n.5456A>T
XR_002958837.1:n.5263A>T
XR_244571.4:n.4783A>T
XR_430568.4:n.5302A>T
NM_001146706.2:c.4357A>T	NP_001140178.1:p.Ser1453Cys
NM_004653.5:c.4528A>T MANE Select	NP_004644.2:p.Ser1510Cys
NM_001146705.2:c.4621A>T	NP_001140177.1:p.Ser1541Cys