Canonical Allele Identifier: CA414843231

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869352G>C (hg19) ; chrY:g.19707466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707466G>C , CM000686.2:g.19707466G>C	GRCh38
NC_000024.9:g.21869352G>C , CM000686.1:g.21869352G>C	GRCh37
NC_000024.8:g.20328740G>C	NCBI36
NG_032920.1:g.42474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3680C>G MANE Select	ENSP00000322408.4:p.Thr1227Arg
ENST00000317961.8:c.3680C>G	ENSP00000322408.4:p.Thr1227Arg
ENST00000382806.6:c.3509C>G	ENSP00000372256.2:p.Thr1170Arg
ENST00000415360.1:c.596C>G	ENSP00000389433.1:p.Thr199Arg
ENST00000440077.5:c.3557C>G	ENSP00000398543.1:p.Thr1186Arg
ENST00000469599.6:n.2278C>G
ENST00000492117.1:n.3572C>G
ENST00000541639.5:c.3773C>G	ENSP00000444293.1:p.Thr1258Arg
NM_001146705.1:c.3773C>G	NP_001140177.1:p.Thr1258Arg
NM_001146706.1:c.3509C>G	NP_001140178.1:p.Thr1170Arg
NM_004653.4:c.3680C>G	NP_004644.2:p.Thr1227Arg
XM_005262560.1:c.3545C>G	XP_005262617.1:p.Thr1182Arg
XM_005262561.1:c.3449C>G	XP_005262618.1:p.Thr1150Arg
XM_011531468.1:c.3602C>G	XP_011529770.1:p.Thr1201Arg
XR_244571.2:n.3968C>G
XR_430568.2:n.4302C>G
XM_005262560.3:c.3545C>G	XP_005262617.1:p.Thr1182Arg
XM_005262561.3:c.3449C>G	XP_005262618.1:p.Thr1150Arg
XM_011531468.3:c.3602C>G	XP_011529770.1:p.Thr1201Arg
XM_024452495.1:c.1670C>G	XP_024308263.1:p.Thr557Arg
XM_024452496.1:c.1436C>G	XP_024308264.1:p.Thr479Arg
XR_001756009.2:n.4418C>G
XR_001756010.2:n.4418C>G
XR_001756011.2:n.4283C>G
XR_001756012.2:n.4431C>G
XR_001756013.2:n.3749C>G
XR_002958832.1:n.3850C>G
XR_002958834.1:n.4074C>G
XR_002958835.1:n.3957C>G
XR_002958836.1:n.4640C>G
XR_002958837.1:n.4447C>G
XR_244571.4:n.3967C>G
XR_430568.4:n.4301C>G
NM_001146706.2:c.3509C>G	NP_001140178.1:p.Thr1170Arg
NM_004653.5:c.3680C>G MANE Select	NP_004644.2:p.Thr1227Arg
NM_001146705.2:c.3773C>G	NP_001140177.1:p.Thr1258Arg