Canonical Allele Identifier: CA414840077

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867972C>G (hg19) ; chrY:g.19706086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706086C>G , CM000686.2:g.19706086C>G	GRCh38
NC_000024.9:g.21867972C>G , CM000686.1:g.21867972C>G	GRCh37
NC_000024.8:g.20327360C>G	NCBI36
NG_032920.1:g.43854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4529G>C MANE Select	ENSP00000322408.4:p.Ser1510Thr
ENST00000317961.8:c.4529G>C	ENSP00000322408.4:p.Ser1510Thr
ENST00000382806.6:c.4358G>C	ENSP00000372256.2:p.Ser1453Thr
ENST00000440077.5:c.4406G>C	ENSP00000398543.1:p.Ser1469Thr
ENST00000469599.6:n.3280G>C
ENST00000492117.1:n.4574G>C
ENST00000541639.5:c.4622G>C	ENSP00000444293.1:p.Ser1541Thr
NM_001146705.1:c.4622G>C	NP_001140177.1:p.Ser1541Thr
NM_001146706.1:c.4358G>C	NP_001140178.1:p.Ser1453Thr
NM_004653.4:c.4529G>C	NP_004644.2:p.Ser1510Thr
XM_005262560.1:c.4394G>C	XP_005262617.1:p.Ser1465Thr
XM_005262561.1:c.4298G>C	XP_005262618.1:p.Ser1433Thr
XM_011531468.1:c.4451G>C	XP_011529770.1:p.Ser1484Thr
XR_430568.2:n.5304G>C
XM_005262560.3:c.4394G>C	XP_005262617.1:p.Ser1465Thr
XM_005262561.3:c.4298G>C	XP_005262618.1:p.Ser1433Thr
XM_011531468.3:c.4451G>C	XP_011529770.1:p.Ser1484Thr
XM_024452495.1:c.2519G>C	XP_024308263.1:p.Ser840Thr
XM_024452496.1:c.2285G>C	XP_024308264.1:p.Ser762Thr
XR_001756009.2:n.5267G>C
XR_001756010.2:n.5235G>C
XR_001756011.2:n.5132G>C
XR_001756012.2:n.5280G>C
XR_001756013.2:n.4598G>C
XR_002958832.1:n.4852G>C
XR_002958834.1:n.4923G>C
XR_002958835.1:n.4806G>C
XR_002958836.1:n.5457G>C
XR_002958837.1:n.5264G>C
XR_244571.4:n.4784G>C
XR_430568.4:n.5303G>C
NM_001146706.2:c.4358G>C	NP_001140178.1:p.Ser1453Thr
NM_004653.5:c.4529G>C MANE Select	NP_004644.2:p.Ser1510Thr
NM_001146705.2:c.4622G>C	NP_001140177.1:p.Ser1541Thr