Canonical Allele Identifier: CA414844755

Gene: KDM5D

Linked Data

• dbSNP Id: rs1603545710
• MyVariant Identifiers: chrY:g.21869947G>T (hg19) ; chrY:g.19708061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708061G>T , CM000686.2:g.19708061G>T	GRCh38
NC_000024.9:g.21869947G>T , CM000686.1:g.21869947G>T	GRCh37
NC_000024.8:g.20329335G>T	NCBI36
NG_032920.1:g.41879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3272C>A MANE Select	ENSP00000322408.4:p.Pro1091Gln
ENST00000317961.8:c.3272C>A	ENSP00000322408.4:p.Pro1091Gln
ENST00000382806.6:c.3101C>A	ENSP00000372256.2:p.Pro1034Gln
ENST00000415360.1:c.188C>A	ENSP00000389433.1:p.Pro63Gln
ENST00000440077.5:c.3149C>A	ENSP00000398543.1:p.Pro1050Gln
ENST00000469599.6:n.1870C>A
ENST00000492117.1:n.3164C>A
ENST00000541639.5:c.3365C>A	ENSP00000444293.1:p.Pro1122Gln
NM_001146705.1:c.3365C>A	NP_001140177.1:p.Pro1122Gln
NM_001146706.1:c.3101C>A	NP_001140178.1:p.Pro1034Gln
NM_004653.4:c.3272C>A	NP_004644.2:p.Pro1091Gln
XM_005262560.1:c.3137C>A	XP_005262617.1:p.Pro1046Gln
XM_005262561.1:c.3041C>A	XP_005262618.1:p.Pro1014Gln
XM_011531468.1:c.3194C>A	XP_011529770.1:p.Pro1065Gln
XR_244571.2:n.3560C>A
XR_430568.2:n.3894C>A
XM_005262560.3:c.3137C>A	XP_005262617.1:p.Pro1046Gln
XM_005262561.3:c.3041C>A	XP_005262618.1:p.Pro1014Gln
XM_011531468.3:c.3194C>A	XP_011529770.1:p.Pro1065Gln
XM_024452495.1:c.1262C>A	XP_024308263.1:p.Pro421Gln
XM_024452496.1:c.1028C>A	XP_024308264.1:p.Pro343Gln
XR_001756009.2:n.4010C>A
XR_001756010.2:n.4010C>A
XR_001756011.2:n.3875C>A
XR_001756012.2:n.4023C>A
XR_001756013.2:n.3341C>A
XR_002958832.1:n.3442C>A
XR_002958834.1:n.3666C>A
XR_002958835.1:n.3549C>A
XR_002958836.1:n.4232C>A
XR_002958837.1:n.4039C>A
XR_244571.4:n.3559C>A
XR_430568.4:n.3893C>A
NM_001146706.2:c.3101C>A	NP_001140178.1:p.Pro1034Gln
NM_004653.5:c.3272C>A MANE Select	NP_004644.2:p.Pro1091Gln
NM_001146705.2:c.3365C>A	NP_001140177.1:p.Pro1122Gln