Canonical Allele Identifier: CA414844319

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869845T>C (hg19) ; chrY:g.19707959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707959T>C , CM000686.2:g.19707959T>C	GRCh38
NC_000024.9:g.21869845T>C , CM000686.1:g.21869845T>C	GRCh37
NC_000024.8:g.20329233T>C	NCBI36
NG_032920.1:g.41981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3374A>G MANE Select	ENSP00000322408.4:p.Gln1125Arg
ENST00000317961.8:c.3374A>G	ENSP00000322408.4:p.Gln1125Arg
ENST00000382806.6:c.3203A>G	ENSP00000372256.2:p.Gln1068Arg
ENST00000415360.1:c.290A>G	ENSP00000389433.1:p.Gln97Arg
ENST00000440077.5:c.3251A>G	ENSP00000398543.1:p.Gln1084Arg
ENST00000469599.6:n.1972A>G
ENST00000492117.1:n.3266A>G
ENST00000541639.5:c.3467A>G	ENSP00000444293.1:p.Gln1156Arg
NM_001146705.1:c.3467A>G	NP_001140177.1:p.Gln1156Arg
NM_001146706.1:c.3203A>G	NP_001140178.1:p.Gln1068Arg
NM_004653.4:c.3374A>G	NP_004644.2:p.Gln1125Arg
XM_005262560.1:c.3239A>G	XP_005262617.1:p.Gln1080Arg
XM_005262561.1:c.3143A>G	XP_005262618.1:p.Gln1048Arg
XM_011531468.1:c.3296A>G	XP_011529770.1:p.Gln1099Arg
XR_244571.2:n.3662A>G
XR_430568.2:n.3996A>G
XM_005262560.3:c.3239A>G	XP_005262617.1:p.Gln1080Arg
XM_005262561.3:c.3143A>G	XP_005262618.1:p.Gln1048Arg
XM_011531468.3:c.3296A>G	XP_011529770.1:p.Gln1099Arg
XM_024452495.1:c.1364A>G	XP_024308263.1:p.Gln455Arg
XM_024452496.1:c.1130A>G	XP_024308264.1:p.Gln377Arg
XR_001756009.2:n.4112A>G
XR_001756010.2:n.4112A>G
XR_001756011.2:n.3977A>G
XR_001756012.2:n.4125A>G
XR_001756013.2:n.3443A>G
XR_002958832.1:n.3544A>G
XR_002958834.1:n.3768A>G
XR_002958835.1:n.3651A>G
XR_002958836.1:n.4334A>G
XR_002958837.1:n.4141A>G
XR_244571.4:n.3661A>G
XR_430568.4:n.3995A>G
NM_001146706.2:c.3203A>G	NP_001140178.1:p.Gln1068Arg
NM_004653.5:c.3374A>G MANE Select	NP_004644.2:p.Gln1125Arg
NM_001146705.2:c.3467A>G	NP_001140177.1:p.Gln1156Arg