Canonical Allele Identifier: CA414840159

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867993A>C (hg19) ; chrY:g.19706107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706107A>C , CM000686.2:g.19706107A>C	GRCh38
NC_000024.9:g.21867993A>C , CM000686.1:g.21867993A>C	GRCh37
NC_000024.8:g.20327381A>C	NCBI36
NG_032920.1:g.43833T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4508T>G MANE Select	ENSP00000322408.4:p.Phe1503Cys
ENST00000317961.8:c.4508T>G	ENSP00000322408.4:p.Phe1503Cys
ENST00000382806.6:c.4337T>G	ENSP00000372256.2:p.Phe1446Cys
ENST00000440077.5:c.4385T>G	ENSP00000398543.1:p.Phe1462Cys
ENST00000469599.6:n.3259T>G
ENST00000492117.1:n.4553T>G
ENST00000541639.5:c.4601T>G	ENSP00000444293.1:p.Phe1534Cys
NM_001146705.1:c.4601T>G	NP_001140177.1:p.Phe1534Cys
NM_001146706.1:c.4337T>G	NP_001140178.1:p.Phe1446Cys
NM_004653.4:c.4508T>G	NP_004644.2:p.Phe1503Cys
XM_005262560.1:c.4373T>G	XP_005262617.1:p.Phe1458Cys
XM_005262561.1:c.4277T>G	XP_005262618.1:p.Phe1426Cys
XM_011531468.1:c.4430T>G	XP_011529770.1:p.Phe1477Cys
XR_430568.2:n.5283T>G
XM_005262560.3:c.4373T>G	XP_005262617.1:p.Phe1458Cys
XM_005262561.3:c.4277T>G	XP_005262618.1:p.Phe1426Cys
XM_011531468.3:c.4430T>G	XP_011529770.1:p.Phe1477Cys
XM_024452495.1:c.2498T>G	XP_024308263.1:p.Phe833Cys
XM_024452496.1:c.2264T>G	XP_024308264.1:p.Phe755Cys
XR_001756009.2:n.5246T>G
XR_001756010.2:n.5214T>G
XR_001756011.2:n.5111T>G
XR_001756012.2:n.5259T>G
XR_001756013.2:n.4577T>G
XR_002958832.1:n.4831T>G
XR_002958834.1:n.4902T>G
XR_002958835.1:n.4785T>G
XR_002958836.1:n.5436T>G
XR_002958837.1:n.5243T>G
XR_244571.4:n.4763T>G
XR_430568.4:n.5282T>G
NM_001146706.2:c.4337T>G	NP_001140178.1:p.Phe1446Cys
NM_004653.5:c.4508T>G MANE Select	NP_004644.2:p.Phe1503Cys
NM_001146705.2:c.4601T>G	NP_001140177.1:p.Phe1534Cys