Canonical Allele Identifier: CA414840394

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868053T>A (hg19) ; chrY:g.19706167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706167T>A , CM000686.2:g.19706167T>A	GRCh38
NC_000024.9:g.21868053T>A , CM000686.1:g.21868053T>A	GRCh37
NC_000024.8:g.20327441T>A	NCBI36
NG_032920.1:g.43773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4448A>T MANE Select	ENSP00000322408.4:p.Tyr1483Phe
ENST00000317961.8:c.4448A>T	ENSP00000322408.4:p.Tyr1483Phe
ENST00000382806.6:c.4277A>T	ENSP00000372256.2:p.Tyr1426Phe
ENST00000440077.5:c.4325A>T	ENSP00000398543.1:p.Tyr1442Phe
ENST00000469599.6:n.3199A>T
ENST00000492117.1:n.4493A>T
ENST00000541639.5:c.4541A>T	ENSP00000444293.1:p.Tyr1514Phe
NM_001146705.1:c.4541A>T	NP_001140177.1:p.Tyr1514Phe
NM_001146706.1:c.4277A>T	NP_001140178.1:p.Tyr1426Phe
NM_004653.4:c.4448A>T	NP_004644.2:p.Tyr1483Phe
XM_005262560.1:c.4313A>T	XP_005262617.1:p.Tyr1438Phe
XM_005262561.1:c.4217A>T	XP_005262618.1:p.Tyr1406Phe
XM_011531468.1:c.4370A>T	XP_011529770.1:p.Tyr1457Phe
XR_430568.2:n.5223A>T
XM_005262560.3:c.4313A>T	XP_005262617.1:p.Tyr1438Phe
XM_005262561.3:c.4217A>T	XP_005262618.1:p.Tyr1406Phe
XM_011531468.3:c.4370A>T	XP_011529770.1:p.Tyr1457Phe
XM_024452495.1:c.2438A>T	XP_024308263.1:p.Tyr813Phe
XM_024452496.1:c.2204A>T	XP_024308264.1:p.Tyr735Phe
XR_001756009.2:n.5186A>T
XR_001756010.2:n.5154A>T
XR_001756011.2:n.5051A>T
XR_001756012.2:n.5199A>T
XR_001756013.2:n.4517A>T
XR_002958832.1:n.4771A>T
XR_002958834.1:n.4842A>T
XR_002958835.1:n.4725A>T
XR_002958836.1:n.5376A>T
XR_002958837.1:n.5183A>T
XR_244571.4:n.4703A>T
XR_430568.4:n.5222A>T
NM_001146706.2:c.4277A>T	NP_001140178.1:p.Tyr1426Phe
NM_004653.5:c.4448A>T MANE Select	NP_004644.2:p.Tyr1483Phe
NM_001146705.2:c.4541A>T	NP_001140177.1:p.Tyr1514Phe