Canonical Allele Identifier: CA414844392

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869869G>C (hg19) ; chrY:g.19707983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707983G>C , CM000686.2:g.19707983G>C	GRCh38
NC_000024.9:g.21869869G>C , CM000686.1:g.21869869G>C	GRCh37
NC_000024.8:g.20329257G>C	NCBI36
NG_032920.1:g.41957C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3350C>G MANE Select	ENSP00000322408.4:p.Thr1117Arg
ENST00000317961.8:c.3350C>G	ENSP00000322408.4:p.Thr1117Arg
ENST00000382806.6:c.3179C>G	ENSP00000372256.2:p.Thr1060Arg
ENST00000415360.1:c.266C>G	ENSP00000389433.1:p.Thr89Arg
ENST00000440077.5:c.3227C>G	ENSP00000398543.1:p.Thr1076Arg
ENST00000469599.6:n.1948C>G
ENST00000492117.1:n.3242C>G
ENST00000541639.5:c.3443C>G	ENSP00000444293.1:p.Thr1148Arg
NM_001146705.1:c.3443C>G	NP_001140177.1:p.Thr1148Arg
NM_001146706.1:c.3179C>G	NP_001140178.1:p.Thr1060Arg
NM_004653.4:c.3350C>G	NP_004644.2:p.Thr1117Arg
XM_005262560.1:c.3215C>G	XP_005262617.1:p.Thr1072Arg
XM_005262561.1:c.3119C>G	XP_005262618.1:p.Thr1040Arg
XM_011531468.1:c.3272C>G	XP_011529770.1:p.Thr1091Arg
XR_244571.2:n.3638C>G
XR_430568.2:n.3972C>G
XM_005262560.3:c.3215C>G	XP_005262617.1:p.Thr1072Arg
XM_005262561.3:c.3119C>G	XP_005262618.1:p.Thr1040Arg
XM_011531468.3:c.3272C>G	XP_011529770.1:p.Thr1091Arg
XM_024452495.1:c.1340C>G	XP_024308263.1:p.Thr447Arg
XM_024452496.1:c.1106C>G	XP_024308264.1:p.Thr369Arg
XR_001756009.2:n.4088C>G
XR_001756010.2:n.4088C>G
XR_001756011.2:n.3953C>G
XR_001756012.2:n.4101C>G
XR_001756013.2:n.3419C>G
XR_002958832.1:n.3520C>G
XR_002958834.1:n.3744C>G
XR_002958835.1:n.3627C>G
XR_002958836.1:n.4310C>G
XR_002958837.1:n.4117C>G
XR_244571.4:n.3637C>G
XR_430568.4:n.3971C>G
NM_001146706.2:c.3179C>G	NP_001140178.1:p.Thr1060Arg
NM_004653.5:c.3350C>G MANE Select	NP_004644.2:p.Thr1117Arg
NM_001146705.2:c.3443C>G	NP_001140177.1:p.Thr1148Arg