Canonical Allele Identifier: CA414843679

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869469T>C (hg19) ; chrY:g.19707583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707583T>C , CM000686.2:g.19707583T>C	GRCh38
NC_000024.9:g.21869469T>C , CM000686.1:g.21869469T>C	GRCh37
NC_000024.8:g.20328857T>C	NCBI36
NG_032920.1:g.42357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3563A>G MANE Select	ENSP00000322408.4:p.Gln1188Arg
ENST00000317961.8:c.3563A>G	ENSP00000322408.4:p.Gln1188Arg
ENST00000382806.6:c.3392A>G	ENSP00000372256.2:p.Gln1131Arg
ENST00000415360.1:c.479A>G	ENSP00000389433.1:p.Gln160Arg
ENST00000440077.5:c.3440A>G	ENSP00000398543.1:p.Gln1147Arg
ENST00000469599.6:n.2161A>G
ENST00000492117.1:n.3455A>G
ENST00000541639.5:c.3656A>G	ENSP00000444293.1:p.Gln1219Arg
NM_001146705.1:c.3656A>G	NP_001140177.1:p.Gln1219Arg
NM_001146706.1:c.3392A>G	NP_001140178.1:p.Gln1131Arg
NM_004653.4:c.3563A>G	NP_004644.2:p.Gln1188Arg
XM_005262560.1:c.3428A>G	XP_005262617.1:p.Gln1143Arg
XM_005262561.1:c.3332A>G	XP_005262618.1:p.Gln1111Arg
XM_011531468.1:c.3485A>G	XP_011529770.1:p.Gln1162Arg
XR_244571.2:n.3851A>G
XR_430568.2:n.4185A>G
XM_005262560.3:c.3428A>G	XP_005262617.1:p.Gln1143Arg
XM_005262561.3:c.3332A>G	XP_005262618.1:p.Gln1111Arg
XM_011531468.3:c.3485A>G	XP_011529770.1:p.Gln1162Arg
XM_024452495.1:c.1553A>G	XP_024308263.1:p.Gln518Arg
XM_024452496.1:c.1319A>G	XP_024308264.1:p.Gln440Arg
XR_001756009.2:n.4301A>G
XR_001756010.2:n.4301A>G
XR_001756011.2:n.4166A>G
XR_001756012.2:n.4314A>G
XR_001756013.2:n.3632A>G
XR_002958832.1:n.3733A>G
XR_002958834.1:n.3957A>G
XR_002958835.1:n.3840A>G
XR_002958836.1:n.4523A>G
XR_002958837.1:n.4330A>G
XR_244571.4:n.3850A>G
XR_430568.4:n.4184A>G
NM_001146706.2:c.3392A>G	NP_001140178.1:p.Gln1131Arg
NM_004653.5:c.3563A>G MANE Select	NP_004644.2:p.Gln1188Arg
NM_001146705.2:c.3656A>G	NP_001140177.1:p.Gln1219Arg