Canonical Allele Identifier: CA414844336

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869851G>C (hg19) ; chrY:g.19707965G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707965G>C , CM000686.2:g.19707965G>C	GRCh38
NC_000024.9:g.21869851G>C , CM000686.1:g.21869851G>C	GRCh37
NC_000024.8:g.20329239G>C	NCBI36
NG_032920.1:g.41975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3368C>G MANE Select	ENSP00000322408.4:p.Ser1123Cys
ENST00000317961.8:c.3368C>G	ENSP00000322408.4:p.Ser1123Cys
ENST00000382806.6:c.3197C>G	ENSP00000372256.2:p.Ser1066Cys
ENST00000415360.1:c.284C>G	ENSP00000389433.1:p.Ser95Cys
ENST00000440077.5:c.3245C>G	ENSP00000398543.1:p.Ser1082Cys
ENST00000469599.6:n.1966C>G
ENST00000492117.1:n.3260C>G
ENST00000541639.5:c.3461C>G	ENSP00000444293.1:p.Ser1154Cys
NM_001146705.1:c.3461C>G	NP_001140177.1:p.Ser1154Cys
NM_001146706.1:c.3197C>G	NP_001140178.1:p.Ser1066Cys
NM_004653.4:c.3368C>G	NP_004644.2:p.Ser1123Cys
XM_005262560.1:c.3233C>G	XP_005262617.1:p.Ser1078Cys
XM_005262561.1:c.3137C>G	XP_005262618.1:p.Ser1046Cys
XM_011531468.1:c.3290C>G	XP_011529770.1:p.Ser1097Cys
XR_244571.2:n.3656C>G
XR_430568.2:n.3990C>G
XM_005262560.3:c.3233C>G	XP_005262617.1:p.Ser1078Cys
XM_005262561.3:c.3137C>G	XP_005262618.1:p.Ser1046Cys
XM_011531468.3:c.3290C>G	XP_011529770.1:p.Ser1097Cys
XM_024452495.1:c.1358C>G	XP_024308263.1:p.Ser453Cys
XM_024452496.1:c.1124C>G	XP_024308264.1:p.Ser375Cys
XR_001756009.2:n.4106C>G
XR_001756010.2:n.4106C>G
XR_001756011.2:n.3971C>G
XR_001756012.2:n.4119C>G
XR_001756013.2:n.3437C>G
XR_002958832.1:n.3538C>G
XR_002958834.1:n.3762C>G
XR_002958835.1:n.3645C>G
XR_002958836.1:n.4328C>G
XR_002958837.1:n.4135C>G
XR_244571.4:n.3655C>G
XR_430568.4:n.3989C>G
NM_001146706.2:c.3197C>G	NP_001140178.1:p.Ser1066Cys
NM_004653.5:c.3368C>G MANE Select	NP_004644.2:p.Ser1123Cys
NM_001146705.2:c.3461C>G	NP_001140177.1:p.Ser1154Cys