Canonical Allele Identifier: CA414840035

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4538A>C MANE Select	ENSP00000322408.4:p.His1513Pro
ENST00000317961.8:c.4538A>C	ENSP00000322408.4:p.His1513Pro
ENST00000382806.6:c.4367A>C	ENSP00000372256.2:p.His1456Pro
ENST00000440077.5:c.4415A>C	ENSP00000398543.1:p.His1472Pro
ENST00000469599.6:n.3289A>C
ENST00000492117.1:n.4583A>C
ENST00000541639.5:c.4631A>C	ENSP00000444293.1:p.His1544Pro
NM_001146705.1:c.4631A>C	NP_001140177.1:p.His1544Pro
NM_001146706.1:c.4367A>C	NP_001140178.1:p.His1456Pro
NM_004653.4:c.4538A>C	NP_004644.2:p.His1513Pro
XM_005262560.1:c.4403A>C	XP_005262617.1:p.His1468Pro
XM_005262561.1:c.4307A>C	XP_005262618.1:p.His1436Pro
XM_011531468.1:c.4460A>C	XP_011529770.1:p.His1487Pro
XR_430568.2:n.5313A>C
XM_005262560.3:c.4403A>C	XP_005262617.1:p.His1468Pro
XM_005262561.3:c.4307A>C	XP_005262618.1:p.His1436Pro
XM_011531468.3:c.4460A>C	XP_011529770.1:p.His1487Pro
XM_024452495.1:c.2528A>C	XP_024308263.1:p.His843Pro
XM_024452496.1:c.2294A>C	XP_024308264.1:p.His765Pro
XR_001756009.2:n.5276A>C
XR_001756010.2:n.5244A>C
XR_001756011.2:n.5141A>C
XR_001756012.2:n.5289A>C
XR_001756013.2:n.4607A>C
XR_002958832.1:n.4861A>C
XR_002958834.1:n.4932A>C
XR_002958835.1:n.4815A>C
XR_002958836.1:n.5466A>C
XR_002958837.1:n.5273A>C
XR_244571.4:n.4793A>C
XR_430568.4:n.5312A>C
NM_001146706.2:c.4367A>C	NP_001140178.1:p.His1456Pro
NM_004653.5:c.4538A>C MANE Select	NP_004644.2:p.His1513Pro
NM_001146705.2:c.4631A>C	NP_001140177.1:p.His1544Pro