Canonical Allele Identifier: CA414843529

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869436T>A (hg19) ; chrY:g.19707550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707550T>A , CM000686.2:g.19707550T>A	GRCh38
NC_000024.9:g.21869436T>A , CM000686.1:g.21869436T>A	GRCh37
NC_000024.8:g.20328824T>A	NCBI36
NG_032920.1:g.42390A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3596A>T MANE Select	ENSP00000322408.4:p.Gln1199Leu
ENST00000317961.8:c.3596A>T	ENSP00000322408.4:p.Gln1199Leu
ENST00000382806.6:c.3425A>T	ENSP00000372256.2:p.Gln1142Leu
ENST00000415360.1:c.512A>T	ENSP00000389433.1:p.Gln171Leu
ENST00000440077.5:c.3473A>T	ENSP00000398543.1:p.Gln1158Leu
ENST00000469599.6:n.2194A>T
ENST00000492117.1:n.3488A>T
ENST00000541639.5:c.3689A>T	ENSP00000444293.1:p.Gln1230Leu
NM_001146705.1:c.3689A>T	NP_001140177.1:p.Gln1230Leu
NM_001146706.1:c.3425A>T	NP_001140178.1:p.Gln1142Leu
NM_004653.4:c.3596A>T	NP_004644.2:p.Gln1199Leu
XM_005262560.1:c.3461A>T	XP_005262617.1:p.Gln1154Leu
XM_005262561.1:c.3365A>T	XP_005262618.1:p.Gln1122Leu
XM_011531468.1:c.3518A>T	XP_011529770.1:p.Gln1173Leu
XR_244571.2:n.3884A>T
XR_430568.2:n.4218A>T
XM_005262560.3:c.3461A>T	XP_005262617.1:p.Gln1154Leu
XM_005262561.3:c.3365A>T	XP_005262618.1:p.Gln1122Leu
XM_011531468.3:c.3518A>T	XP_011529770.1:p.Gln1173Leu
XM_024452495.1:c.1586A>T	XP_024308263.1:p.Gln529Leu
XM_024452496.1:c.1352A>T	XP_024308264.1:p.Gln451Leu
XR_001756009.2:n.4334A>T
XR_001756010.2:n.4334A>T
XR_001756011.2:n.4199A>T
XR_001756012.2:n.4347A>T
XR_001756013.2:n.3665A>T
XR_002958832.1:n.3766A>T
XR_002958834.1:n.3990A>T
XR_002958835.1:n.3873A>T
XR_002958836.1:n.4556A>T
XR_002958837.1:n.4363A>T
XR_244571.4:n.3883A>T
XR_430568.4:n.4217A>T
NM_001146706.2:c.3425A>T	NP_001140178.1:p.Gln1142Leu
NM_004653.5:c.3596A>T MANE Select	NP_004644.2:p.Gln1199Leu
NM_001146705.2:c.3689A>T	NP_001140177.1:p.Gln1230Leu