Canonical Allele Identifier: CA414840211

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868005T>C (hg19) ; chrY:g.19706119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706119T>C , CM000686.2:g.19706119T>C	GRCh38
NC_000024.9:g.21868005T>C , CM000686.1:g.21868005T>C	GRCh37
NC_000024.8:g.20327393T>C	NCBI36
NG_032920.1:g.43821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4496A>G MANE Select	ENSP00000322408.4:p.Asp1499Gly
ENST00000317961.8:c.4496A>G	ENSP00000322408.4:p.Asp1499Gly
ENST00000382806.6:c.4325A>G	ENSP00000372256.2:p.Asp1442Gly
ENST00000440077.5:c.4373A>G	ENSP00000398543.1:p.Asp1458Gly
ENST00000469599.6:n.3247A>G
ENST00000492117.1:n.4541A>G
ENST00000541639.5:c.4589A>G	ENSP00000444293.1:p.Asp1530Gly
NM_001146705.1:c.4589A>G	NP_001140177.1:p.Asp1530Gly
NM_001146706.1:c.4325A>G	NP_001140178.1:p.Asp1442Gly
NM_004653.4:c.4496A>G	NP_004644.2:p.Asp1499Gly
XM_005262560.1:c.4361A>G	XP_005262617.1:p.Asp1454Gly
XM_005262561.1:c.4265A>G	XP_005262618.1:p.Asp1422Gly
XM_011531468.1:c.4418A>G	XP_011529770.1:p.Asp1473Gly
XR_430568.2:n.5271A>G
XM_005262560.3:c.4361A>G	XP_005262617.1:p.Asp1454Gly
XM_005262561.3:c.4265A>G	XP_005262618.1:p.Asp1422Gly
XM_011531468.3:c.4418A>G	XP_011529770.1:p.Asp1473Gly
XM_024452495.1:c.2486A>G	XP_024308263.1:p.Asp829Gly
XM_024452496.1:c.2252A>G	XP_024308264.1:p.Asp751Gly
XR_001756009.2:n.5234A>G
XR_001756010.2:n.5202A>G
XR_001756011.2:n.5099A>G
XR_001756012.2:n.5247A>G
XR_001756013.2:n.4565A>G
XR_002958832.1:n.4819A>G
XR_002958834.1:n.4890A>G
XR_002958835.1:n.4773A>G
XR_002958836.1:n.5424A>G
XR_002958837.1:n.5231A>G
XR_244571.4:n.4751A>G
XR_430568.4:n.5270A>G
NM_001146706.2:c.4325A>G	NP_001140178.1:p.Asp1442Gly
NM_004653.5:c.4496A>G MANE Select	NP_004644.2:p.Asp1499Gly
NM_001146705.2:c.4589A>G	NP_001140177.1:p.Asp1530Gly