Canonical Allele Identifier: CA414839763

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867892G>C (hg19) ; chrY:g.19706006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706006G>C , CM000686.2:g.19706006G>C	GRCh38
NC_000024.9:g.21867892G>C , CM000686.1:g.21867892G>C	GRCh37
NC_000024.8:g.20327280G>C	NCBI36
NG_032920.1:g.43934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4609C>G MANE Select	ENSP00000322408.4:p.Gln1537Glu
ENST00000317961.8:c.4609C>G	ENSP00000322408.4:p.Gln1537Glu
ENST00000382806.6:c.4438C>G	ENSP00000372256.2:p.Gln1480Glu
ENST00000469599.6:n.3360C>G
ENST00000492117.1:n.4654C>G
ENST00000541639.5:c.4702C>G	ENSP00000444293.1:p.Gln1568Glu
NM_001146705.1:c.4702C>G	NP_001140177.1:p.Gln1568Glu
NM_001146706.1:c.4438C>G	NP_001140178.1:p.Gln1480Glu
NM_004653.4:c.4609C>G	NP_004644.2:p.Gln1537Glu
XM_005262560.1:c.4474C>G	XP_005262617.1:p.Gln1492Glu
XM_005262561.1:c.4378C>G	XP_005262618.1:p.Gln1460Glu
XM_011531468.1:c.4531C>G	XP_011529770.1:p.Gln1511Glu
XR_430568.2:n.5384C>G
XM_005262560.3:c.4474C>G	XP_005262617.1:p.Gln1492Glu
XM_005262561.3:c.4378C>G	XP_005262618.1:p.Gln1460Glu
XM_011531468.3:c.4531C>G	XP_011529770.1:p.Gln1511Glu
XM_024452495.1:c.2599C>G	XP_024308263.1:p.Gln867Glu
XM_024452496.1:c.2365C>G	XP_024308264.1:p.Gln789Glu
XR_001756009.2:n.5347C>G
XR_001756010.2:n.5315C>G
XR_001756011.2:n.5212C>G
XR_001756012.2:n.5360C>G
XR_001756013.2:n.4678C>G
XR_002958832.1:n.4932C>G
XR_002958834.1:n.5003C>G
XR_002958835.1:n.4886C>G
XR_002958836.1:n.5537C>G
XR_002958837.1:n.5344C>G
XR_244571.4:n.4864C>G
XR_430568.4:n.5383C>G
NM_001146706.2:c.4438C>G	NP_001140178.1:p.Gln1480Glu
NM_004653.5:c.4609C>G MANE Select	NP_004644.2:p.Gln1537Glu
NM_001146705.2:c.4702C>G	NP_001140177.1:p.Gln1568Glu