Canonical Allele Identifier: CA414842094

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868744T>A (hg19) ; chrY:g.19706858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706858T>A , CM000686.2:g.19706858T>A	GRCh38
NC_000024.9:g.21868744T>A , CM000686.1:g.21868744T>A	GRCh37
NC_000024.8:g.20328132T>A	NCBI36
NG_032920.1:g.43082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4005A>T MANE Select	ENSP00000322408.4:p.Gln1335His
ENST00000317961.8:c.4005A>T	ENSP00000322408.4:p.Gln1335His
ENST00000382806.6:c.3834A>T	ENSP00000372256.2:p.Gln1278His
ENST00000440077.5:c.3882A>T	ENSP00000398543.1:p.Gln1294His
ENST00000469599.6:n.2603A>T
ENST00000492117.1:n.3897A>T
ENST00000541639.5:c.4098A>T	ENSP00000444293.1:p.Gln1366His
NM_001146705.1:c.4098A>T	NP_001140177.1:p.Gln1366His
NM_001146706.1:c.3834A>T	NP_001140178.1:p.Gln1278His
NM_004653.4:c.4005A>T	NP_004644.2:p.Gln1335His
XM_005262560.1:c.3870A>T	XP_005262617.1:p.Gln1290His
XM_005262561.1:c.3774A>T	XP_005262618.1:p.Gln1258His
XM_011531468.1:c.3927A>T	XP_011529770.1:p.Gln1309His
XR_244571.2:n.4293A>T
XR_430568.2:n.4627A>T
XM_005262560.3:c.3870A>T	XP_005262617.1:p.Gln1290His
XM_005262561.3:c.3774A>T	XP_005262618.1:p.Gln1258His
XM_011531468.3:c.3927A>T	XP_011529770.1:p.Gln1309His
XM_024452495.1:c.1995A>T	XP_024308263.1:p.Gln665His
XM_024452496.1:c.1761A>T	XP_024308264.1:p.Gln587His
XR_001756009.2:n.4743A>T
XR_001756010.2:n.4743A>T
XR_001756011.2:n.4608A>T
XR_001756012.2:n.4756A>T
XR_001756013.2:n.4074A>T
XR_002958832.1:n.4175A>T
XR_002958834.1:n.4399A>T
XR_002958835.1:n.4282A>T
XR_002958836.1:n.4965A>T
XR_002958837.1:n.4772A>T
XR_244571.4:n.4292A>T
XR_430568.4:n.4626A>T
NM_001146706.2:c.3834A>T	NP_001140178.1:p.Gln1278His
NM_004653.5:c.4005A>T MANE Select	NP_004644.2:p.Gln1335His
NM_001146705.2:c.4098A>T	NP_001140177.1:p.Gln1366His