Canonical Allele Identifier: CA520160886

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869952A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708066A>C , CM000686.2:g.19708066A>C	GRCh38
NC_000024.9:g.21869952A>C , CM000686.1:g.21869952A>C	GRCh37
NC_000024.8:g.20329340A>C	NCBI36
NG_032920.1:g.41874T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3267T>G MANE Select	ENSP00000322408.4:p.Leu1089=
ENST00000317961.8:c.3267T>G	ENSP00000322408.4:p.Leu1089=
ENST00000382806.6:c.3096T>G	ENSP00000372256.2:p.Leu1032=
ENST00000415360.1:c.183T>G	ENSP00000389433.1:p.Leu61=
ENST00000440077.5:c.3144T>G	ENSP00000398543.1:p.Leu1048=
ENST00000469599.6:n.1865T>G
ENST00000492117.1:n.3159T>G
ENST00000541639.5:c.3360T>G	ENSP00000444293.1:p.Leu1120=
NM_001146705.1:c.3360T>G	NP_001140177.1:p.Leu1120=
NM_001146706.1:c.3096T>G	NP_001140178.1:p.Leu1032=
NM_004653.4:c.3267T>G	NP_004644.2:p.Leu1089=
XM_005262560.1:c.3132T>G	XP_005262617.1:p.Leu1044=
XM_005262561.1:c.3036T>G	XP_005262618.1:p.Leu1012=
XM_011531468.1:c.3189T>G	XP_011529770.1:p.Leu1063=
XR_244571.2:n.3555T>G
XR_430568.2:n.3889T>G
XM_005262560.3:c.3132T>G	XP_005262617.1:p.Leu1044=
XM_005262561.3:c.3036T>G	XP_005262618.1:p.Leu1012=
XM_011531468.3:c.3189T>G	XP_011529770.1:p.Leu1063=
XM_024452495.1:c.1257T>G	XP_024308263.1:p.Leu419=
XM_024452496.1:c.1023T>G	XP_024308264.1:p.Leu341=
XR_001756009.2:n.4005T>G
XR_001756010.2:n.4005T>G
XR_001756011.2:n.3870T>G
XR_001756012.2:n.4018T>G
XR_001756013.2:n.3336T>G
XR_002958832.1:n.3437T>G
XR_002958834.1:n.3661T>G
XR_002958835.1:n.3544T>G
XR_002958836.1:n.4227T>G
XR_002958837.1:n.4034T>G
XR_244571.4:n.3554T>G
XR_430568.4:n.3888T>G
NM_001146706.2:c.3096T>G	NP_001140178.1:p.Leu1032=
NM_004653.5:c.3267T>G MANE Select	NP_004644.2:p.Leu1089=
NM_001146705.2:c.3360T>G	NP_001140177.1:p.Leu1120=