Canonical Allele Identifier: CA414844475

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869890A>T (hg19) ; chrY:g.19708004A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708004A>T , CM000686.2:g.19708004A>T	GRCh38
NC_000024.9:g.21869890A>T , CM000686.1:g.21869890A>T	GRCh37
NC_000024.8:g.20329278A>T	NCBI36
NG_032920.1:g.41936T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3329T>A MANE Select	ENSP00000322408.4:p.Leu1110Gln
ENST00000317961.8:c.3329T>A	ENSP00000322408.4:p.Leu1110Gln
ENST00000382806.6:c.3158T>A	ENSP00000372256.2:p.Leu1053Gln
ENST00000415360.1:c.245T>A	ENSP00000389433.1:p.Leu82Gln
ENST00000440077.5:c.3206T>A	ENSP00000398543.1:p.Leu1069Gln
ENST00000469599.6:n.1927T>A
ENST00000492117.1:n.3221T>A
ENST00000541639.5:c.3422T>A	ENSP00000444293.1:p.Leu1141Gln
NM_001146705.1:c.3422T>A	NP_001140177.1:p.Leu1141Gln
NM_001146706.1:c.3158T>A	NP_001140178.1:p.Leu1053Gln
NM_004653.4:c.3329T>A	NP_004644.2:p.Leu1110Gln
XM_005262560.1:c.3194T>A	XP_005262617.1:p.Leu1065Gln
XM_005262561.1:c.3098T>A	XP_005262618.1:p.Leu1033Gln
XM_011531468.1:c.3251T>A	XP_011529770.1:p.Leu1084Gln
XR_244571.2:n.3617T>A
XR_430568.2:n.3951T>A
XM_005262560.3:c.3194T>A	XP_005262617.1:p.Leu1065Gln
XM_005262561.3:c.3098T>A	XP_005262618.1:p.Leu1033Gln
XM_011531468.3:c.3251T>A	XP_011529770.1:p.Leu1084Gln
XM_024452495.1:c.1319T>A	XP_024308263.1:p.Leu440Gln
XM_024452496.1:c.1085T>A	XP_024308264.1:p.Leu362Gln
XR_001756009.2:n.4067T>A
XR_001756010.2:n.4067T>A
XR_001756011.2:n.3932T>A
XR_001756012.2:n.4080T>A
XR_001756013.2:n.3398T>A
XR_002958832.1:n.3499T>A
XR_002958834.1:n.3723T>A
XR_002958835.1:n.3606T>A
XR_002958836.1:n.4289T>A
XR_002958837.1:n.4096T>A
XR_244571.4:n.3616T>A
XR_430568.4:n.3950T>A
NM_001146706.2:c.3158T>A	NP_001140178.1:p.Leu1053Gln
NM_004653.5:c.3329T>A MANE Select	NP_004644.2:p.Leu1110Gln
NM_001146705.2:c.3422T>A	NP_001140177.1:p.Leu1141Gln