Canonical Allele Identifier: CA414840406

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868055A>T (hg19) ; chrY:g.19706169A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706169A>T , CM000686.2:g.19706169A>T	GRCh38
NC_000024.9:g.21868055A>T , CM000686.1:g.21868055A>T	GRCh37
NC_000024.8:g.20327443A>T	NCBI36
NG_032920.1:g.43771T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4446T>A MANE Select	ENSP00000322408.4:p.His1482Gln
ENST00000317961.8:c.4446T>A	ENSP00000322408.4:p.His1482Gln
ENST00000382806.6:c.4275T>A	ENSP00000372256.2:p.His1425Gln
ENST00000440077.5:c.4323T>A	ENSP00000398543.1:p.His1441Gln
ENST00000469599.6:n.3197T>A
ENST00000492117.1:n.4491T>A
ENST00000541639.5:c.4539T>A	ENSP00000444293.1:p.His1513Gln
NM_001146705.1:c.4539T>A	NP_001140177.1:p.His1513Gln
NM_001146706.1:c.4275T>A	NP_001140178.1:p.His1425Gln
NM_004653.4:c.4446T>A	NP_004644.2:p.His1482Gln
XM_005262560.1:c.4311T>A	XP_005262617.1:p.His1437Gln
XM_005262561.1:c.4215T>A	XP_005262618.1:p.His1405Gln
XM_011531468.1:c.4368T>A	XP_011529770.1:p.His1456Gln
XR_430568.2:n.5221T>A
XM_005262560.3:c.4311T>A	XP_005262617.1:p.His1437Gln
XM_005262561.3:c.4215T>A	XP_005262618.1:p.His1405Gln
XM_011531468.3:c.4368T>A	XP_011529770.1:p.His1456Gln
XM_024452495.1:c.2436T>A	XP_024308263.1:p.His812Gln
XM_024452496.1:c.2202T>A	XP_024308264.1:p.His734Gln
XR_001756009.2:n.5184T>A
XR_001756010.2:n.5152T>A
XR_001756011.2:n.5049T>A
XR_001756012.2:n.5197T>A
XR_001756013.2:n.4515T>A
XR_002958832.1:n.4769T>A
XR_002958834.1:n.4840T>A
XR_002958835.1:n.4723T>A
XR_002958836.1:n.5374T>A
XR_002958837.1:n.5181T>A
XR_244571.4:n.4701T>A
XR_430568.4:n.5220T>A
NM_001146706.2:c.4275T>A	NP_001140178.1:p.His1425Gln
NM_004653.5:c.4446T>A MANE Select	NP_004644.2:p.His1482Gln
NM_001146705.2:c.4539T>A	NP_001140177.1:p.His1513Gln