Canonical Allele Identifier: CA414840390

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868052A>C (hg19) ; chrY:g.19706166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706166A>C , CM000686.2:g.19706166A>C	GRCh38
NC_000024.9:g.21868052A>C , CM000686.1:g.21868052A>C	GRCh37
NC_000024.8:g.20327440A>C	NCBI36
NG_032920.1:g.43774T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4449T>G MANE Select	ENSP00000322408.4:p.Tyr1483Ter
ENST00000317961.8:c.4449T>G	ENSP00000322408.4:p.Tyr1483Ter
ENST00000382806.6:c.4278T>G	ENSP00000372256.2:p.Tyr1426Ter
ENST00000440077.5:c.4326T>G	ENSP00000398543.1:p.Tyr1442Ter
ENST00000469599.6:n.3200T>G
ENST00000492117.1:n.4494T>G
ENST00000541639.5:c.4542T>G	ENSP00000444293.1:p.Tyr1514Ter
NM_001146705.1:c.4542T>G	NP_001140177.1:p.Tyr1514Ter
NM_001146706.1:c.4278T>G	NP_001140178.1:p.Tyr1426Ter
NM_004653.4:c.4449T>G	NP_004644.2:p.Tyr1483Ter
XM_005262560.1:c.4314T>G	XP_005262617.1:p.Tyr1438Ter
XM_005262561.1:c.4218T>G	XP_005262618.1:p.Tyr1406Ter
XM_011531468.1:c.4371T>G	XP_011529770.1:p.Tyr1457Ter
XR_430568.2:n.5224T>G
XM_005262560.3:c.4314T>G	XP_005262617.1:p.Tyr1438Ter
XM_005262561.3:c.4218T>G	XP_005262618.1:p.Tyr1406Ter
XM_011531468.3:c.4371T>G	XP_011529770.1:p.Tyr1457Ter
XM_024452495.1:c.2439T>G	XP_024308263.1:p.Tyr813Ter
XM_024452496.1:c.2205T>G	XP_024308264.1:p.Tyr735Ter
XR_001756009.2:n.5187T>G
XR_001756010.2:n.5155T>G
XR_001756011.2:n.5052T>G
XR_001756012.2:n.5200T>G
XR_001756013.2:n.4518T>G
XR_002958832.1:n.4772T>G
XR_002958834.1:n.4843T>G
XR_002958835.1:n.4726T>G
XR_002958836.1:n.5377T>G
XR_002958837.1:n.5184T>G
XR_244571.4:n.4704T>G
XR_430568.4:n.5223T>G
NM_001146706.2:c.4278T>G	NP_001140178.1:p.Tyr1426Ter
NM_004653.5:c.4449T>G MANE Select	NP_004644.2:p.Tyr1483Ter
NM_001146705.2:c.4542T>G	NP_001140177.1:p.Tyr1514Ter