Canonical Allele Identifier: CA414840199

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868002T>G (hg19) ; chrY:g.19706116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706116T>G , CM000686.2:g.19706116T>G	GRCh38
NC_000024.9:g.21868002T>G , CM000686.1:g.21868002T>G	GRCh37
NC_000024.8:g.20327390T>G	NCBI36
NG_032920.1:g.43824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4499A>C MANE Select	ENSP00000322408.4:p.His1500Pro
ENST00000317961.8:c.4499A>C	ENSP00000322408.4:p.His1500Pro
ENST00000382806.6:c.4328A>C	ENSP00000372256.2:p.His1443Pro
ENST00000440077.5:c.4376A>C	ENSP00000398543.1:p.His1459Pro
ENST00000469599.6:n.3250A>C
ENST00000492117.1:n.4544A>C
ENST00000541639.5:c.4592A>C	ENSP00000444293.1:p.His1531Pro
NM_001146705.1:c.4592A>C	NP_001140177.1:p.His1531Pro
NM_001146706.1:c.4328A>C	NP_001140178.1:p.His1443Pro
NM_004653.4:c.4499A>C	NP_004644.2:p.His1500Pro
XM_005262560.1:c.4364A>C	XP_005262617.1:p.His1455Pro
XM_005262561.1:c.4268A>C	XP_005262618.1:p.His1423Pro
XM_011531468.1:c.4421A>C	XP_011529770.1:p.His1474Pro
XR_430568.2:n.5274A>C
XM_005262560.3:c.4364A>C	XP_005262617.1:p.His1455Pro
XM_005262561.3:c.4268A>C	XP_005262618.1:p.His1423Pro
XM_011531468.3:c.4421A>C	XP_011529770.1:p.His1474Pro
XM_024452495.1:c.2489A>C	XP_024308263.1:p.His830Pro
XM_024452496.1:c.2255A>C	XP_024308264.1:p.His752Pro
XR_001756009.2:n.5237A>C
XR_001756010.2:n.5205A>C
XR_001756011.2:n.5102A>C
XR_001756012.2:n.5250A>C
XR_001756013.2:n.4568A>C
XR_002958832.1:n.4822A>C
XR_002958834.1:n.4893A>C
XR_002958835.1:n.4776A>C
XR_002958836.1:n.5427A>C
XR_002958837.1:n.5234A>C
XR_244571.4:n.4754A>C
XR_430568.4:n.5273A>C
NM_001146706.2:c.4328A>C	NP_001140178.1:p.His1443Pro
NM_004653.5:c.4499A>C MANE Select	NP_004644.2:p.His1500Pro
NM_001146705.2:c.4592A>C	NP_001140177.1:p.His1531Pro