Canonical Allele Identifier: CA414840384

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868051G>C (hg19) ; chrY:g.19706165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706165G>C , CM000686.2:g.19706165G>C	GRCh38
NC_000024.9:g.21868051G>C , CM000686.1:g.21868051G>C	GRCh37
NC_000024.8:g.20327439G>C	NCBI36
NG_032920.1:g.43775C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4450C>G MANE Select	ENSP00000322408.4:p.Gln1484Glu
ENST00000317961.8:c.4450C>G	ENSP00000322408.4:p.Gln1484Glu
ENST00000382806.6:c.4279C>G	ENSP00000372256.2:p.Gln1427Glu
ENST00000440077.5:c.4327C>G	ENSP00000398543.1:p.Gln1443Glu
ENST00000469599.6:n.3201C>G
ENST00000492117.1:n.4495C>G
ENST00000541639.5:c.4543C>G	ENSP00000444293.1:p.Gln1515Glu
NM_001146705.1:c.4543C>G	NP_001140177.1:p.Gln1515Glu
NM_001146706.1:c.4279C>G	NP_001140178.1:p.Gln1427Glu
NM_004653.4:c.4450C>G	NP_004644.2:p.Gln1484Glu
XM_005262560.1:c.4315C>G	XP_005262617.1:p.Gln1439Glu
XM_005262561.1:c.4219C>G	XP_005262618.1:p.Gln1407Glu
XM_011531468.1:c.4372C>G	XP_011529770.1:p.Gln1458Glu
XR_430568.2:n.5225C>G
XM_005262560.3:c.4315C>G	XP_005262617.1:p.Gln1439Glu
XM_005262561.3:c.4219C>G	XP_005262618.1:p.Gln1407Glu
XM_011531468.3:c.4372C>G	XP_011529770.1:p.Gln1458Glu
XM_024452495.1:c.2440C>G	XP_024308263.1:p.Gln814Glu
XM_024452496.1:c.2206C>G	XP_024308264.1:p.Gln736Glu
XR_001756009.2:n.5188C>G
XR_001756010.2:n.5156C>G
XR_001756011.2:n.5053C>G
XR_001756012.2:n.5201C>G
XR_001756013.2:n.4519C>G
XR_002958832.1:n.4773C>G
XR_002958834.1:n.4844C>G
XR_002958835.1:n.4727C>G
XR_002958836.1:n.5378C>G
XR_002958837.1:n.5185C>G
XR_244571.4:n.4705C>G
XR_430568.4:n.5224C>G
NM_001146706.2:c.4279C>G	NP_001140178.1:p.Gln1427Glu
NM_004653.5:c.4450C>G MANE Select	NP_004644.2:p.Gln1484Glu
NM_001146705.2:c.4543C>G	NP_001140177.1:p.Gln1515Glu