Canonical Allele Identifier: CA414840232

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868011G>C (hg19) ; chrY:g.19706125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706125G>C , CM000686.2:g.19706125G>C	GRCh38
NC_000024.9:g.21868011G>C , CM000686.1:g.21868011G>C	GRCh37
NC_000024.8:g.20327399G>C	NCBI36
NG_032920.1:g.43815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4490C>G MANE Select	ENSP00000322408.4:p.Ser1497Cys
ENST00000317961.8:c.4490C>G	ENSP00000322408.4:p.Ser1497Cys
ENST00000382806.6:c.4319C>G	ENSP00000372256.2:p.Ser1440Cys
ENST00000440077.5:c.4367C>G	ENSP00000398543.1:p.Ser1456Cys
ENST00000469599.6:n.3241C>G
ENST00000492117.1:n.4535C>G
ENST00000541639.5:c.4583C>G	ENSP00000444293.1:p.Ser1528Cys
NM_001146705.1:c.4583C>G	NP_001140177.1:p.Ser1528Cys
NM_001146706.1:c.4319C>G	NP_001140178.1:p.Ser1440Cys
NM_004653.4:c.4490C>G	NP_004644.2:p.Ser1497Cys
XM_005262560.1:c.4355C>G	XP_005262617.1:p.Ser1452Cys
XM_005262561.1:c.4259C>G	XP_005262618.1:p.Ser1420Cys
XM_011531468.1:c.4412C>G	XP_011529770.1:p.Ser1471Cys
XR_430568.2:n.5265C>G
XM_005262560.3:c.4355C>G	XP_005262617.1:p.Ser1452Cys
XM_005262561.3:c.4259C>G	XP_005262618.1:p.Ser1420Cys
XM_011531468.3:c.4412C>G	XP_011529770.1:p.Ser1471Cys
XM_024452495.1:c.2480C>G	XP_024308263.1:p.Ser827Cys
XM_024452496.1:c.2246C>G	XP_024308264.1:p.Ser749Cys
XR_001756009.2:n.5228C>G
XR_001756010.2:n.5196C>G
XR_001756011.2:n.5093C>G
XR_001756012.2:n.5241C>G
XR_001756013.2:n.4559C>G
XR_002958832.1:n.4813C>G
XR_002958834.1:n.4884C>G
XR_002958835.1:n.4767C>G
XR_002958836.1:n.5418C>G
XR_002958837.1:n.5225C>G
XR_244571.4:n.4745C>G
XR_430568.4:n.5264C>G
NM_001146706.2:c.4319C>G	NP_001140178.1:p.Ser1440Cys
NM_004653.5:c.4490C>G MANE Select	NP_004644.2:p.Ser1497Cys
NM_001146705.2:c.4583C>G	NP_001140177.1:p.Ser1528Cys