Canonical Allele Identifier: CA414840096

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867977T>A (hg19) ; chrY:g.19706091T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706091T>A , CM000686.2:g.19706091T>A	GRCh38
NC_000024.9:g.21867977T>A , CM000686.1:g.21867977T>A	GRCh37
NC_000024.8:g.20327365T>A	NCBI36
NG_032920.1:g.43849A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4524A>T MANE Select	ENSP00000322408.4:p.Gln1508His
ENST00000317961.8:c.4524A>T	ENSP00000322408.4:p.Gln1508His
ENST00000382806.6:c.4353A>T	ENSP00000372256.2:p.Gln1451His
ENST00000440077.5:c.4401A>T	ENSP00000398543.1:p.Gln1467His
ENST00000469599.6:n.3275A>T
ENST00000492117.1:n.4569A>T
ENST00000541639.5:c.4617A>T	ENSP00000444293.1:p.Gln1539His
NM_001146705.1:c.4617A>T	NP_001140177.1:p.Gln1539His
NM_001146706.1:c.4353A>T	NP_001140178.1:p.Gln1451His
NM_004653.4:c.4524A>T	NP_004644.2:p.Gln1508His
XM_005262560.1:c.4389A>T	XP_005262617.1:p.Gln1463His
XM_005262561.1:c.4293A>T	XP_005262618.1:p.Gln1431His
XM_011531468.1:c.4446A>T	XP_011529770.1:p.Gln1482His
XR_430568.2:n.5299A>T
XM_005262560.3:c.4389A>T	XP_005262617.1:p.Gln1463His
XM_005262561.3:c.4293A>T	XP_005262618.1:p.Gln1431His
XM_011531468.3:c.4446A>T	XP_011529770.1:p.Gln1482His
XM_024452495.1:c.2514A>T	XP_024308263.1:p.Gln838His
XM_024452496.1:c.2280A>T	XP_024308264.1:p.Gln760His
XR_001756009.2:n.5262A>T
XR_001756010.2:n.5230A>T
XR_001756011.2:n.5127A>T
XR_001756012.2:n.5275A>T
XR_001756013.2:n.4593A>T
XR_002958832.1:n.4847A>T
XR_002958834.1:n.4918A>T
XR_002958835.1:n.4801A>T
XR_002958836.1:n.5452A>T
XR_002958837.1:n.5259A>T
XR_244571.4:n.4779A>T
XR_430568.4:n.5298A>T
NM_001146706.2:c.4353A>T	NP_001140178.1:p.Gln1451His
NM_004653.5:c.4524A>T MANE Select	NP_004644.2:p.Gln1508His
NM_001146705.2:c.4617A>T	NP_001140177.1:p.Gln1539His