Canonical Allele Identifier: CA414844118

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869607T>A (hg19) ; chrY:g.19707721T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707721T>A , CM000686.2:g.19707721T>A	GRCh38
NC_000024.9:g.21869607T>A , CM000686.1:g.21869607T>A	GRCh37
NC_000024.8:g.20328995T>A	NCBI36
NG_032920.1:g.42219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3425A>T MANE Select	ENSP00000322408.4:p.Gln1142Leu
ENST00000317961.8:c.3425A>T	ENSP00000322408.4:p.Gln1142Leu
ENST00000382806.6:c.3254A>T	ENSP00000372256.2:p.Gln1085Leu
ENST00000415360.1:c.341A>T	ENSP00000389433.1:p.Gln114Leu
ENST00000440077.5:c.3302A>T	ENSP00000398543.1:p.Gln1101Leu
ENST00000469599.6:n.2023A>T
ENST00000492117.1:n.3317A>T
ENST00000541639.5:c.3518A>T	ENSP00000444293.1:p.Gln1173Leu
NM_001146705.1:c.3518A>T	NP_001140177.1:p.Gln1173Leu
NM_001146706.1:c.3254A>T	NP_001140178.1:p.Gln1085Leu
NM_004653.4:c.3425A>T	NP_004644.2:p.Gln1142Leu
XM_005262560.1:c.3290A>T	XP_005262617.1:p.Gln1097Leu
XM_005262561.1:c.3194A>T	XP_005262618.1:p.Gln1065Leu
XM_011531468.1:c.3347A>T	XP_011529770.1:p.Gln1116Leu
XR_244571.2:n.3713A>T
XR_430568.2:n.4047A>T
XM_005262560.3:c.3290A>T	XP_005262617.1:p.Gln1097Leu
XM_005262561.3:c.3194A>T	XP_005262618.1:p.Gln1065Leu
XM_011531468.3:c.3347A>T	XP_011529770.1:p.Gln1116Leu
XM_024452495.1:c.1415A>T	XP_024308263.1:p.Gln472Leu
XM_024452496.1:c.1181A>T	XP_024308264.1:p.Gln394Leu
XR_001756009.2:n.4163A>T
XR_001756010.2:n.4163A>T
XR_001756011.2:n.4028A>T
XR_001756012.2:n.4176A>T
XR_001756013.2:n.3494A>T
XR_002958832.1:n.3595A>T
XR_002958834.1:n.3819A>T
XR_002958835.1:n.3702A>T
XR_002958836.1:n.4385A>T
XR_002958837.1:n.4192A>T
XR_244571.4:n.3712A>T
XR_430568.4:n.4046A>T
NM_001146706.2:c.3254A>T	NP_001140178.1:p.Gln1085Leu
NM_004653.5:c.3425A>T MANE Select	NP_004644.2:p.Gln1142Leu
NM_001146705.2:c.3518A>T	NP_001140177.1:p.Gln1173Leu