Canonical Allele Identifier: CA414844427

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869878T>A (hg19) ; chrY:g.19707992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707992T>A , CM000686.2:g.19707992T>A	GRCh38
NC_000024.9:g.21869878T>A , CM000686.1:g.21869878T>A	GRCh37
NC_000024.8:g.20329266T>A	NCBI36
NG_032920.1:g.41948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3341A>T MANE Select	ENSP00000322408.4:p.Gln1114Leu
ENST00000317961.8:c.3341A>T	ENSP00000322408.4:p.Gln1114Leu
ENST00000382806.6:c.3170A>T	ENSP00000372256.2:p.Gln1057Leu
ENST00000415360.1:c.257A>T	ENSP00000389433.1:p.Gln86Leu
ENST00000440077.5:c.3218A>T	ENSP00000398543.1:p.Gln1073Leu
ENST00000469599.6:n.1939A>T
ENST00000492117.1:n.3233A>T
ENST00000541639.5:c.3434A>T	ENSP00000444293.1:p.Gln1145Leu
NM_001146705.1:c.3434A>T	NP_001140177.1:p.Gln1145Leu
NM_001146706.1:c.3170A>T	NP_001140178.1:p.Gln1057Leu
NM_004653.4:c.3341A>T	NP_004644.2:p.Gln1114Leu
XM_005262560.1:c.3206A>T	XP_005262617.1:p.Gln1069Leu
XM_005262561.1:c.3110A>T	XP_005262618.1:p.Gln1037Leu
XM_011531468.1:c.3263A>T	XP_011529770.1:p.Gln1088Leu
XR_244571.2:n.3629A>T
XR_430568.2:n.3963A>T
XM_005262560.3:c.3206A>T	XP_005262617.1:p.Gln1069Leu
XM_005262561.3:c.3110A>T	XP_005262618.1:p.Gln1037Leu
XM_011531468.3:c.3263A>T	XP_011529770.1:p.Gln1088Leu
XM_024452495.1:c.1331A>T	XP_024308263.1:p.Gln444Leu
XM_024452496.1:c.1097A>T	XP_024308264.1:p.Gln366Leu
XR_001756009.2:n.4079A>T
XR_001756010.2:n.4079A>T
XR_001756011.2:n.3944A>T
XR_001756012.2:n.4092A>T
XR_001756013.2:n.3410A>T
XR_002958832.1:n.3511A>T
XR_002958834.1:n.3735A>T
XR_002958835.1:n.3618A>T
XR_002958836.1:n.4301A>T
XR_002958837.1:n.4108A>T
XR_244571.4:n.3628A>T
XR_430568.4:n.3962A>T
NM_001146706.2:c.3170A>T	NP_001140178.1:p.Gln1057Leu
NM_004653.5:c.3341A>T MANE Select	NP_004644.2:p.Gln1114Leu
NM_001146705.2:c.3434A>T	NP_001140177.1:p.Gln1145Leu