Canonical Allele Identifier: CA414843953

Gene: KDM5D

Linked Data

• dbSNP Id: rs1603545701
• MyVariant Identifiers: chrY:g.21869548G>T (hg19) ; chrY:g.19707662G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707662G>T , CM000686.2:g.19707662G>T	GRCh38
NC_000024.9:g.21869548G>T , CM000686.1:g.21869548G>T	GRCh37
NC_000024.8:g.20328936G>T	NCBI36
NG_032920.1:g.42278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3484C>A MANE Select	ENSP00000322408.4:p.Leu1162Met
ENST00000317961.8:c.3484C>A	ENSP00000322408.4:p.Leu1162Met
ENST00000382806.6:c.3313C>A	ENSP00000372256.2:p.Leu1105Met
ENST00000415360.1:c.400C>A	ENSP00000389433.1:p.Leu134Met
ENST00000440077.5:c.3361C>A	ENSP00000398543.1:p.Leu1121Met
ENST00000469599.6:n.2082C>A
ENST00000492117.1:n.3376C>A
ENST00000541639.5:c.3577C>A	ENSP00000444293.1:p.Leu1193Met
NM_001146705.1:c.3577C>A	NP_001140177.1:p.Leu1193Met
NM_001146706.1:c.3313C>A	NP_001140178.1:p.Leu1105Met
NM_004653.4:c.3484C>A	NP_004644.2:p.Leu1162Met
XM_005262560.1:c.3349C>A	XP_005262617.1:p.Leu1117Met
XM_005262561.1:c.3253C>A	XP_005262618.1:p.Leu1085Met
XM_011531468.1:c.3406C>A	XP_011529770.1:p.Leu1136Met
XR_244571.2:n.3772C>A
XR_430568.2:n.4106C>A
XM_005262560.3:c.3349C>A	XP_005262617.1:p.Leu1117Met
XM_005262561.3:c.3253C>A	XP_005262618.1:p.Leu1085Met
XM_011531468.3:c.3406C>A	XP_011529770.1:p.Leu1136Met
XM_024452495.1:c.1474C>A	XP_024308263.1:p.Leu492Met
XM_024452496.1:c.1240C>A	XP_024308264.1:p.Leu414Met
XR_001756009.2:n.4222C>A
XR_001756010.2:n.4222C>A
XR_001756011.2:n.4087C>A
XR_001756012.2:n.4235C>A
XR_001756013.2:n.3553C>A
XR_002958832.1:n.3654C>A
XR_002958834.1:n.3878C>A
XR_002958835.1:n.3761C>A
XR_002958836.1:n.4444C>A
XR_002958837.1:n.4251C>A
XR_244571.4:n.3771C>A
XR_430568.4:n.4105C>A
NM_001146706.2:c.3313C>A	NP_001140178.1:p.Leu1105Met
NM_004653.5:c.3484C>A MANE Select	NP_004644.2:p.Leu1162Met
NM_001146705.2:c.3577C>A	NP_001140177.1:p.Leu1193Met