Canonical Allele Identifier: CA414839970

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867948G>C (hg19) ; chrY:g.19706062G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706062G>C , CM000686.2:g.19706062G>C	GRCh38
NC_000024.9:g.21867948G>C , CM000686.1:g.21867948G>C	GRCh37
NC_000024.8:g.20327336G>C	NCBI36
NG_032920.1:g.43878C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4553C>G MANE Select	ENSP00000322408.4:p.Ser1518Cys
ENST00000317961.8:c.4553C>G	ENSP00000322408.4:p.Ser1518Cys
ENST00000382806.6:c.4382C>G	ENSP00000372256.2:p.Ser1461Cys
ENST00000469599.6:n.3304C>G
ENST00000492117.1:n.4598C>G
ENST00000541639.5:c.4646C>G	ENSP00000444293.1:p.Ser1549Cys
NM_001146705.1:c.4646C>G	NP_001140177.1:p.Ser1549Cys
NM_001146706.1:c.4382C>G	NP_001140178.1:p.Ser1461Cys
NM_004653.4:c.4553C>G	NP_004644.2:p.Ser1518Cys
XM_005262560.1:c.4418C>G	XP_005262617.1:p.Ser1473Cys
XM_005262561.1:c.4322C>G	XP_005262618.1:p.Ser1441Cys
XM_011531468.1:c.4475C>G	XP_011529770.1:p.Ser1492Cys
XR_430568.2:n.5328C>G
XM_005262560.3:c.4418C>G	XP_005262617.1:p.Ser1473Cys
XM_005262561.3:c.4322C>G	XP_005262618.1:p.Ser1441Cys
XM_011531468.3:c.4475C>G	XP_011529770.1:p.Ser1492Cys
XM_024452495.1:c.2543C>G	XP_024308263.1:p.Ser848Cys
XM_024452496.1:c.2309C>G	XP_024308264.1:p.Ser770Cys
XR_001756009.2:n.5291C>G
XR_001756010.2:n.5259C>G
XR_001756011.2:n.5156C>G
XR_001756012.2:n.5304C>G
XR_001756013.2:n.4622C>G
XR_002958832.1:n.4876C>G
XR_002958834.1:n.4947C>G
XR_002958835.1:n.4830C>G
XR_002958836.1:n.5481C>G
XR_002958837.1:n.5288C>G
XR_244571.4:n.4808C>G
XR_430568.4:n.5327C>G
NM_001146706.2:c.4382C>G	NP_001140178.1:p.Ser1461Cys
NM_004653.5:c.4553C>G MANE Select	NP_004644.2:p.Ser1518Cys
NM_001146705.2:c.4646C>G	NP_001140177.1:p.Ser1549Cys