Canonical Allele Identifier: CA414840339

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868041G>C (hg19) ; chrY:g.19706155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706155G>C , CM000686.2:g.19706155G>C	GRCh38
NC_000024.9:g.21868041G>C , CM000686.1:g.21868041G>C	GRCh37
NC_000024.8:g.20327429G>C	NCBI36
NG_032920.1:g.43785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4460C>G MANE Select	ENSP00000322408.4:p.Ala1487Gly
ENST00000317961.8:c.4460C>G	ENSP00000322408.4:p.Ala1487Gly
ENST00000382806.6:c.4289C>G	ENSP00000372256.2:p.Ala1430Gly
ENST00000440077.5:c.4337C>G	ENSP00000398543.1:p.Ala1446Gly
ENST00000469599.6:n.3211C>G
ENST00000492117.1:n.4505C>G
ENST00000541639.5:c.4553C>G	ENSP00000444293.1:p.Ala1518Gly
NM_001146705.1:c.4553C>G	NP_001140177.1:p.Ala1518Gly
NM_001146706.1:c.4289C>G	NP_001140178.1:p.Ala1430Gly
NM_004653.4:c.4460C>G	NP_004644.2:p.Ala1487Gly
XM_005262560.1:c.4325C>G	XP_005262617.1:p.Ala1442Gly
XM_005262561.1:c.4229C>G	XP_005262618.1:p.Ala1410Gly
XM_011531468.1:c.4382C>G	XP_011529770.1:p.Ala1461Gly
XR_430568.2:n.5235C>G
XM_005262560.3:c.4325C>G	XP_005262617.1:p.Ala1442Gly
XM_005262561.3:c.4229C>G	XP_005262618.1:p.Ala1410Gly
XM_011531468.3:c.4382C>G	XP_011529770.1:p.Ala1461Gly
XM_024452495.1:c.2450C>G	XP_024308263.1:p.Ala817Gly
XM_024452496.1:c.2216C>G	XP_024308264.1:p.Ala739Gly
XR_001756009.2:n.5198C>G
XR_001756010.2:n.5166C>G
XR_001756011.2:n.5063C>G
XR_001756012.2:n.5211C>G
XR_001756013.2:n.4529C>G
XR_002958832.1:n.4783C>G
XR_002958834.1:n.4854C>G
XR_002958835.1:n.4737C>G
XR_002958836.1:n.5388C>G
XR_002958837.1:n.5195C>G
XR_244571.4:n.4715C>G
XR_430568.4:n.5234C>G
NM_001146706.2:c.4289C>G	NP_001140178.1:p.Ala1430Gly
NM_004653.5:c.4460C>G MANE Select	NP_004644.2:p.Ala1487Gly
NM_001146705.2:c.4553C>G	NP_001140177.1:p.Ala1518Gly