Canonical Allele Identifier: CA414844390

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3350C>T MANE Select	ENSP00000322408.4:p.Thr1117Ile
ENST00000317961.8:c.3350C>T	ENSP00000322408.4:p.Thr1117Ile
ENST00000382806.6:c.3179C>T	ENSP00000372256.2:p.Thr1060Ile
ENST00000415360.1:c.266C>T	ENSP00000389433.1:p.Thr89Ile
ENST00000440077.5:c.3227C>T	ENSP00000398543.1:p.Thr1076Ile
ENST00000469599.6:n.1948C>T
ENST00000492117.1:n.3242C>T
ENST00000541639.5:c.3443C>T	ENSP00000444293.1:p.Thr1148Ile
NM_001146705.1:c.3443C>T	NP_001140177.1:p.Thr1148Ile
NM_001146706.1:c.3179C>T	NP_001140178.1:p.Thr1060Ile
NM_004653.4:c.3350C>T	NP_004644.2:p.Thr1117Ile
XM_005262560.1:c.3215C>T	XP_005262617.1:p.Thr1072Ile
XM_005262561.1:c.3119C>T	XP_005262618.1:p.Thr1040Ile
XM_011531468.1:c.3272C>T	XP_011529770.1:p.Thr1091Ile
XR_244571.2:n.3638C>T
XR_430568.2:n.3972C>T
XM_005262560.3:c.3215C>T	XP_005262617.1:p.Thr1072Ile
XM_005262561.3:c.3119C>T	XP_005262618.1:p.Thr1040Ile
XM_011531468.3:c.3272C>T	XP_011529770.1:p.Thr1091Ile
XM_024452495.1:c.1340C>T	XP_024308263.1:p.Thr447Ile
XM_024452496.1:c.1106C>T	XP_024308264.1:p.Thr369Ile
XR_001756009.2:n.4088C>T
XR_001756010.2:n.4088C>T
XR_001756011.2:n.3953C>T
XR_001756012.2:n.4101C>T
XR_001756013.2:n.3419C>T
XR_002958832.1:n.3520C>T
XR_002958834.1:n.3744C>T
XR_002958835.1:n.3627C>T
XR_002958836.1:n.4310C>T
XR_002958837.1:n.4117C>T
XR_244571.4:n.3637C>T
XR_430568.4:n.3971C>T
NM_001146706.2:c.3179C>T	NP_001140178.1:p.Thr1060Ile
NM_004653.5:c.3350C>T MANE Select	NP_004644.2:p.Thr1117Ile
NM_001146705.2:c.3443C>T	NP_001140177.1:p.Thr1148Ile