Canonical Allele Identifier: CA414840218

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868008G>C (hg19) ; chrY:g.19706122G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706122G>C , CM000686.2:g.19706122G>C	GRCh38
NC_000024.9:g.21868008G>C , CM000686.1:g.21868008G>C	GRCh37
NC_000024.8:g.20327396G>C	NCBI36
NG_032920.1:g.43818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4493C>G MANE Select	ENSP00000322408.4:p.Thr1498Arg
ENST00000317961.8:c.4493C>G	ENSP00000322408.4:p.Thr1498Arg
ENST00000382806.6:c.4322C>G	ENSP00000372256.2:p.Thr1441Arg
ENST00000440077.5:c.4370C>G	ENSP00000398543.1:p.Thr1457Arg
ENST00000469599.6:n.3244C>G
ENST00000492117.1:n.4538C>G
ENST00000541639.5:c.4586C>G	ENSP00000444293.1:p.Thr1529Arg
NM_001146705.1:c.4586C>G	NP_001140177.1:p.Thr1529Arg
NM_001146706.1:c.4322C>G	NP_001140178.1:p.Thr1441Arg
NM_004653.4:c.4493C>G	NP_004644.2:p.Thr1498Arg
XM_005262560.1:c.4358C>G	XP_005262617.1:p.Thr1453Arg
XM_005262561.1:c.4262C>G	XP_005262618.1:p.Thr1421Arg
XM_011531468.1:c.4415C>G	XP_011529770.1:p.Thr1472Arg
XR_430568.2:n.5268C>G
XM_005262560.3:c.4358C>G	XP_005262617.1:p.Thr1453Arg
XM_005262561.3:c.4262C>G	XP_005262618.1:p.Thr1421Arg
XM_011531468.3:c.4415C>G	XP_011529770.1:p.Thr1472Arg
XM_024452495.1:c.2483C>G	XP_024308263.1:p.Thr828Arg
XM_024452496.1:c.2249C>G	XP_024308264.1:p.Thr750Arg
XR_001756009.2:n.5231C>G
XR_001756010.2:n.5199C>G
XR_001756011.2:n.5096C>G
XR_001756012.2:n.5244C>G
XR_001756013.2:n.4562C>G
XR_002958832.1:n.4816C>G
XR_002958834.1:n.4887C>G
XR_002958835.1:n.4770C>G
XR_002958836.1:n.5421C>G
XR_002958837.1:n.5228C>G
XR_244571.4:n.4748C>G
XR_430568.4:n.5267C>G
NM_001146706.2:c.4322C>G	NP_001140178.1:p.Thr1441Arg
NM_004653.5:c.4493C>G MANE Select	NP_004644.2:p.Thr1498Arg
NM_001146705.2:c.4586C>G	NP_001140177.1:p.Thr1529Arg