Canonical Allele Identifier: CA414843191

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869339A>C (hg19) ; chrY:g.19707453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707453A>C , CM000686.2:g.19707453A>C	GRCh38
NC_000024.9:g.21869339A>C , CM000686.1:g.21869339A>C	GRCh37
NC_000024.8:g.20328727A>C	NCBI36
NG_032920.1:g.42487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3693T>G MANE Select	ENSP00000322408.4:p.Cys1231Trp
ENST00000317961.8:c.3693T>G	ENSP00000322408.4:p.Cys1231Trp
ENST00000382806.6:c.3522T>G	ENSP00000372256.2:p.Cys1174Trp
ENST00000415360.1:c.609T>G	ENSP00000389433.1:p.Cys203Trp
ENST00000440077.5:c.3570T>G	ENSP00000398543.1:p.Cys1190Trp
ENST00000469599.6:n.2291T>G
ENST00000492117.1:n.3585T>G
ENST00000541639.5:c.3786T>G	ENSP00000444293.1:p.Cys1262Trp
NM_001146705.1:c.3786T>G	NP_001140177.1:p.Cys1262Trp
NM_001146706.1:c.3522T>G	NP_001140178.1:p.Cys1174Trp
NM_004653.4:c.3693T>G	NP_004644.2:p.Cys1231Trp
XM_005262560.1:c.3558T>G	XP_005262617.1:p.Cys1186Trp
XM_005262561.1:c.3462T>G	XP_005262618.1:p.Cys1154Trp
XM_011531468.1:c.3615T>G	XP_011529770.1:p.Cys1205Trp
XR_244571.2:n.3981T>G
XR_430568.2:n.4315T>G
XM_005262560.3:c.3558T>G	XP_005262617.1:p.Cys1186Trp
XM_005262561.3:c.3462T>G	XP_005262618.1:p.Cys1154Trp
XM_011531468.3:c.3615T>G	XP_011529770.1:p.Cys1205Trp
XM_024452495.1:c.1683T>G	XP_024308263.1:p.Cys561Trp
XM_024452496.1:c.1449T>G	XP_024308264.1:p.Cys483Trp
XR_001756009.2:n.4431T>G
XR_001756010.2:n.4431T>G
XR_001756011.2:n.4296T>G
XR_001756012.2:n.4444T>G
XR_001756013.2:n.3762T>G
XR_002958832.1:n.3863T>G
XR_002958834.1:n.4087T>G
XR_002958835.1:n.3970T>G
XR_002958836.1:n.4653T>G
XR_002958837.1:n.4460T>G
XR_244571.4:n.3980T>G
XR_430568.4:n.4314T>G
NM_001146706.2:c.3522T>G	NP_001140178.1:p.Cys1174Trp
NM_004653.5:c.3693T>G MANE Select	NP_004644.2:p.Cys1231Trp
NM_001146705.2:c.3786T>G	NP_001140177.1:p.Cys1262Trp