Canonical Allele Identifier: CA414843633

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869460A>C (hg19) ; chrY:g.19707574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707574A>C , CM000686.2:g.19707574A>C	GRCh38
NC_000024.9:g.21869460A>C , CM000686.1:g.21869460A>C	GRCh37
NC_000024.8:g.20328848A>C	NCBI36
NG_032920.1:g.42366T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3572T>G MANE Select	ENSP00000322408.4:p.Leu1191Arg
ENST00000317961.8:c.3572T>G	ENSP00000322408.4:p.Leu1191Arg
ENST00000382806.6:c.3401T>G	ENSP00000372256.2:p.Leu1134Arg
ENST00000415360.1:c.488T>G	ENSP00000389433.1:p.Leu163Arg
ENST00000440077.5:c.3449T>G	ENSP00000398543.1:p.Leu1150Arg
ENST00000469599.6:n.2170T>G
ENST00000492117.1:n.3464T>G
ENST00000541639.5:c.3665T>G	ENSP00000444293.1:p.Leu1222Arg
NM_001146705.1:c.3665T>G	NP_001140177.1:p.Leu1222Arg
NM_001146706.1:c.3401T>G	NP_001140178.1:p.Leu1134Arg
NM_004653.4:c.3572T>G	NP_004644.2:p.Leu1191Arg
XM_005262560.1:c.3437T>G	XP_005262617.1:p.Leu1146Arg
XM_005262561.1:c.3341T>G	XP_005262618.1:p.Leu1114Arg
XM_011531468.1:c.3494T>G	XP_011529770.1:p.Leu1165Arg
XR_244571.2:n.3860T>G
XR_430568.2:n.4194T>G
XM_005262560.3:c.3437T>G	XP_005262617.1:p.Leu1146Arg
XM_005262561.3:c.3341T>G	XP_005262618.1:p.Leu1114Arg
XM_011531468.3:c.3494T>G	XP_011529770.1:p.Leu1165Arg
XM_024452495.1:c.1562T>G	XP_024308263.1:p.Leu521Arg
XM_024452496.1:c.1328T>G	XP_024308264.1:p.Leu443Arg
XR_001756009.2:n.4310T>G
XR_001756010.2:n.4310T>G
XR_001756011.2:n.4175T>G
XR_001756012.2:n.4323T>G
XR_001756013.2:n.3641T>G
XR_002958832.1:n.3742T>G
XR_002958834.1:n.3966T>G
XR_002958835.1:n.3849T>G
XR_002958836.1:n.4532T>G
XR_002958837.1:n.4339T>G
XR_244571.4:n.3859T>G
XR_430568.4:n.4193T>G
NM_001146706.2:c.3401T>G	NP_001140178.1:p.Leu1134Arg
NM_004653.5:c.3572T>G MANE Select	NP_004644.2:p.Leu1191Arg
NM_001146705.2:c.3665T>G	NP_001140177.1:p.Leu1222Arg