Canonical Allele Identifier: CA414840099

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867978T>C (hg19) ; chrY:g.19706092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706092T>C , CM000686.2:g.19706092T>C	GRCh38
NC_000024.9:g.21867978T>C , CM000686.1:g.21867978T>C	GRCh37
NC_000024.8:g.20327366T>C	NCBI36
NG_032920.1:g.43848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4523A>G MANE Select	ENSP00000322408.4:p.Gln1508Arg
ENST00000317961.8:c.4523A>G	ENSP00000322408.4:p.Gln1508Arg
ENST00000382806.6:c.4352A>G	ENSP00000372256.2:p.Gln1451Arg
ENST00000440077.5:c.4400A>G	ENSP00000398543.1:p.Gln1467Arg
ENST00000469599.6:n.3274A>G
ENST00000492117.1:n.4568A>G
ENST00000541639.5:c.4616A>G	ENSP00000444293.1:p.Gln1539Arg
NM_001146705.1:c.4616A>G	NP_001140177.1:p.Gln1539Arg
NM_001146706.1:c.4352A>G	NP_001140178.1:p.Gln1451Arg
NM_004653.4:c.4523A>G	NP_004644.2:p.Gln1508Arg
XM_005262560.1:c.4388A>G	XP_005262617.1:p.Gln1463Arg
XM_005262561.1:c.4292A>G	XP_005262618.1:p.Gln1431Arg
XM_011531468.1:c.4445A>G	XP_011529770.1:p.Gln1482Arg
XR_430568.2:n.5298A>G
XM_005262560.3:c.4388A>G	XP_005262617.1:p.Gln1463Arg
XM_005262561.3:c.4292A>G	XP_005262618.1:p.Gln1431Arg
XM_011531468.3:c.4445A>G	XP_011529770.1:p.Gln1482Arg
XM_024452495.1:c.2513A>G	XP_024308263.1:p.Gln838Arg
XM_024452496.1:c.2279A>G	XP_024308264.1:p.Gln760Arg
XR_001756009.2:n.5261A>G
XR_001756010.2:n.5229A>G
XR_001756011.2:n.5126A>G
XR_001756012.2:n.5274A>G
XR_001756013.2:n.4592A>G
XR_002958832.1:n.4846A>G
XR_002958834.1:n.4917A>G
XR_002958835.1:n.4800A>G
XR_002958836.1:n.5451A>G
XR_002958837.1:n.5258A>G
XR_244571.4:n.4778A>G
XR_430568.4:n.5297A>G
NM_001146706.2:c.4352A>G	NP_001140178.1:p.Gln1451Arg
NM_004653.5:c.4523A>G MANE Select	NP_004644.2:p.Gln1508Arg
NM_001146705.2:c.4616A>G	NP_001140177.1:p.Gln1539Arg