Canonical Allele Identifier: CA414843778

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869497G>C (hg19) ; chrY:g.19707611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707611G>C , CM000686.2:g.19707611G>C	GRCh38
NC_000024.9:g.21869497G>C , CM000686.1:g.21869497G>C	GRCh37
NC_000024.8:g.20328885G>C	NCBI36
NG_032920.1:g.42329C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3535C>G MANE Select	ENSP00000322408.4:p.Gln1179Glu
ENST00000317961.8:c.3535C>G	ENSP00000322408.4:p.Gln1179Glu
ENST00000382806.6:c.3364C>G	ENSP00000372256.2:p.Gln1122Glu
ENST00000415360.1:c.451C>G	ENSP00000389433.1:p.Gln151Glu
ENST00000440077.5:c.3412C>G	ENSP00000398543.1:p.Gln1138Glu
ENST00000469599.6:n.2133C>G
ENST00000492117.1:n.3427C>G
ENST00000541639.5:c.3628C>G	ENSP00000444293.1:p.Gln1210Glu
NM_001146705.1:c.3628C>G	NP_001140177.1:p.Gln1210Glu
NM_001146706.1:c.3364C>G	NP_001140178.1:p.Gln1122Glu
NM_004653.4:c.3535C>G	NP_004644.2:p.Gln1179Glu
XM_005262560.1:c.3400C>G	XP_005262617.1:p.Gln1134Glu
XM_005262561.1:c.3304C>G	XP_005262618.1:p.Gln1102Glu
XM_011531468.1:c.3457C>G	XP_011529770.1:p.Gln1153Glu
XR_244571.2:n.3823C>G
XR_430568.2:n.4157C>G
XM_005262560.3:c.3400C>G	XP_005262617.1:p.Gln1134Glu
XM_005262561.3:c.3304C>G	XP_005262618.1:p.Gln1102Glu
XM_011531468.3:c.3457C>G	XP_011529770.1:p.Gln1153Glu
XM_024452495.1:c.1525C>G	XP_024308263.1:p.Gln509Glu
XM_024452496.1:c.1291C>G	XP_024308264.1:p.Gln431Glu
XR_001756009.2:n.4273C>G
XR_001756010.2:n.4273C>G
XR_001756011.2:n.4138C>G
XR_001756012.2:n.4286C>G
XR_001756013.2:n.3604C>G
XR_002958832.1:n.3705C>G
XR_002958834.1:n.3929C>G
XR_002958835.1:n.3812C>G
XR_002958836.1:n.4495C>G
XR_002958837.1:n.4302C>G
XR_244571.4:n.3822C>G
XR_430568.4:n.4156C>G
NM_001146706.2:c.3364C>G	NP_001140178.1:p.Gln1122Glu
NM_004653.5:c.3535C>G MANE Select	NP_004644.2:p.Gln1179Glu
NM_001146705.2:c.3628C>G	NP_001140177.1:p.Gln1210Glu