Canonical Allele Identifier: CA414844630

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869921T>A (hg19) ; chrY:g.19708035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708035T>A , CM000686.2:g.19708035T>A	GRCh38
NC_000024.9:g.21869921T>A , CM000686.1:g.21869921T>A	GRCh37
NC_000024.8:g.20329309T>A	NCBI36
NG_032920.1:g.41905A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3298A>T MANE Select	ENSP00000322408.4:p.Thr1100Ser
ENST00000317961.8:c.3298A>T	ENSP00000322408.4:p.Thr1100Ser
ENST00000382806.6:c.3127A>T	ENSP00000372256.2:p.Thr1043Ser
ENST00000415360.1:c.214A>T	ENSP00000389433.1:p.Thr72Ser
ENST00000440077.5:c.3175A>T	ENSP00000398543.1:p.Thr1059Ser
ENST00000469599.6:n.1896A>T
ENST00000492117.1:n.3190A>T
ENST00000541639.5:c.3391A>T	ENSP00000444293.1:p.Thr1131Ser
NM_001146705.1:c.3391A>T	NP_001140177.1:p.Thr1131Ser
NM_001146706.1:c.3127A>T	NP_001140178.1:p.Thr1043Ser
NM_004653.4:c.3298A>T	NP_004644.2:p.Thr1100Ser
XM_005262560.1:c.3163A>T	XP_005262617.1:p.Thr1055Ser
XM_005262561.1:c.3067A>T	XP_005262618.1:p.Thr1023Ser
XM_011531468.1:c.3220A>T	XP_011529770.1:p.Thr1074Ser
XR_244571.2:n.3586A>T
XR_430568.2:n.3920A>T
XM_005262560.3:c.3163A>T	XP_005262617.1:p.Thr1055Ser
XM_005262561.3:c.3067A>T	XP_005262618.1:p.Thr1023Ser
XM_011531468.3:c.3220A>T	XP_011529770.1:p.Thr1074Ser
XM_024452495.1:c.1288A>T	XP_024308263.1:p.Thr430Ser
XM_024452496.1:c.1054A>T	XP_024308264.1:p.Thr352Ser
XR_001756009.2:n.4036A>T
XR_001756010.2:n.4036A>T
XR_001756011.2:n.3901A>T
XR_001756012.2:n.4049A>T
XR_001756013.2:n.3367A>T
XR_002958832.1:n.3468A>T
XR_002958834.1:n.3692A>T
XR_002958835.1:n.3575A>T
XR_002958836.1:n.4258A>T
XR_002958837.1:n.4065A>T
XR_244571.4:n.3585A>T
XR_430568.4:n.3919A>T
NM_001146706.2:c.3127A>T	NP_001140178.1:p.Thr1043Ser
NM_004653.5:c.3298A>T MANE Select	NP_004644.2:p.Thr1100Ser
NM_001146705.2:c.3391A>T	NP_001140177.1:p.Thr1131Ser