Canonical Allele Identifier: CA414840031

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867963T>A (hg19) ; chrY:g.19706077T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706077T>A , CM000686.2:g.19706077T>A	GRCh38
NC_000024.9:g.21867963T>A , CM000686.1:g.21867963T>A	GRCh37
NC_000024.8:g.20327351T>A	NCBI36
NG_032920.1:g.43863A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4538A>T MANE Select	ENSP00000322408.4:p.His1513Leu
ENST00000317961.8:c.4538A>T	ENSP00000322408.4:p.His1513Leu
ENST00000382806.6:c.4367A>T	ENSP00000372256.2:p.His1456Leu
ENST00000440077.5:c.4415A>T	ENSP00000398543.1:p.His1472Leu
ENST00000469599.6:n.3289A>T
ENST00000492117.1:n.4583A>T
ENST00000541639.5:c.4631A>T	ENSP00000444293.1:p.His1544Leu
NM_001146705.1:c.4631A>T	NP_001140177.1:p.His1544Leu
NM_001146706.1:c.4367A>T	NP_001140178.1:p.His1456Leu
NM_004653.4:c.4538A>T	NP_004644.2:p.His1513Leu
XM_005262560.1:c.4403A>T	XP_005262617.1:p.His1468Leu
XM_005262561.1:c.4307A>T	XP_005262618.1:p.His1436Leu
XM_011531468.1:c.4460A>T	XP_011529770.1:p.His1487Leu
XR_430568.2:n.5313A>T
XM_005262560.3:c.4403A>T	XP_005262617.1:p.His1468Leu
XM_005262561.3:c.4307A>T	XP_005262618.1:p.His1436Leu
XM_011531468.3:c.4460A>T	XP_011529770.1:p.His1487Leu
XM_024452495.1:c.2528A>T	XP_024308263.1:p.His843Leu
XM_024452496.1:c.2294A>T	XP_024308264.1:p.His765Leu
XR_001756009.2:n.5276A>T
XR_001756010.2:n.5244A>T
XR_001756011.2:n.5141A>T
XR_001756012.2:n.5289A>T
XR_001756013.2:n.4607A>T
XR_002958832.1:n.4861A>T
XR_002958834.1:n.4932A>T
XR_002958835.1:n.4815A>T
XR_002958836.1:n.5466A>T
XR_002958837.1:n.5273A>T
XR_244571.4:n.4793A>T
XR_430568.4:n.5312A>T
NM_001146706.2:c.4367A>T	NP_001140178.1:p.His1456Leu
NM_004653.5:c.4538A>T MANE Select	NP_004644.2:p.His1513Leu
NM_001146705.2:c.4631A>T	NP_001140177.1:p.His1544Leu