Canonical Allele Identifier: CA414844507

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869897T>C (hg19) ; chrY:g.19708011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708011T>C , CM000686.2:g.19708011T>C	GRCh38
NC_000024.9:g.21869897T>C , CM000686.1:g.21869897T>C	GRCh37
NC_000024.8:g.20329285T>C	NCBI36
NG_032920.1:g.41929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3322A>G MANE Select	ENSP00000322408.4:p.Lys1108Glu
ENST00000317961.8:c.3322A>G	ENSP00000322408.4:p.Lys1108Glu
ENST00000382806.6:c.3151A>G	ENSP00000372256.2:p.Lys1051Glu
ENST00000415360.1:c.238A>G	ENSP00000389433.1:p.Lys80Glu
ENST00000440077.5:c.3199A>G	ENSP00000398543.1:p.Lys1067Glu
ENST00000469599.6:n.1920A>G
ENST00000492117.1:n.3214A>G
ENST00000541639.5:c.3415A>G	ENSP00000444293.1:p.Lys1139Glu
NM_001146705.1:c.3415A>G	NP_001140177.1:p.Lys1139Glu
NM_001146706.1:c.3151A>G	NP_001140178.1:p.Lys1051Glu
NM_004653.4:c.3322A>G	NP_004644.2:p.Lys1108Glu
XM_005262560.1:c.3187A>G	XP_005262617.1:p.Lys1063Glu
XM_005262561.1:c.3091A>G	XP_005262618.1:p.Lys1031Glu
XM_011531468.1:c.3244A>G	XP_011529770.1:p.Lys1082Glu
XR_244571.2:n.3610A>G
XR_430568.2:n.3944A>G
XM_005262560.3:c.3187A>G	XP_005262617.1:p.Lys1063Glu
XM_005262561.3:c.3091A>G	XP_005262618.1:p.Lys1031Glu
XM_011531468.3:c.3244A>G	XP_011529770.1:p.Lys1082Glu
XM_024452495.1:c.1312A>G	XP_024308263.1:p.Lys438Glu
XM_024452496.1:c.1078A>G	XP_024308264.1:p.Lys360Glu
XR_001756009.2:n.4060A>G
XR_001756010.2:n.4060A>G
XR_001756011.2:n.3925A>G
XR_001756012.2:n.4073A>G
XR_001756013.2:n.3391A>G
XR_002958832.1:n.3492A>G
XR_002958834.1:n.3716A>G
XR_002958835.1:n.3599A>G
XR_002958836.1:n.4282A>G
XR_002958837.1:n.4089A>G
XR_244571.4:n.3609A>G
XR_430568.4:n.3943A>G
NM_001146706.2:c.3151A>G	NP_001140178.1:p.Lys1051Glu
NM_004653.5:c.3322A>G MANE Select	NP_004644.2:p.Lys1108Glu
NM_001146705.2:c.3415A>G	NP_001140177.1:p.Lys1139Glu