Canonical Allele Identifier: CA414844511

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869898C>A (hg19) ; chrY:g.19708012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708012C>A , CM000686.2:g.19708012C>A	GRCh38
NC_000024.9:g.21869898C>A , CM000686.1:g.21869898C>A	GRCh37
NC_000024.8:g.20329286C>A	NCBI36
NG_032920.1:g.41928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3321G>T MANE Select	ENSP00000322408.4:p.Glu1107Asp
ENST00000317961.8:c.3321G>T	ENSP00000322408.4:p.Glu1107Asp
ENST00000382806.6:c.3150G>T	ENSP00000372256.2:p.Glu1050Asp
ENST00000415360.1:c.237G>T	ENSP00000389433.1:p.Glu79Asp
ENST00000440077.5:c.3198G>T	ENSP00000398543.1:p.Glu1066Asp
ENST00000469599.6:n.1919G>T
ENST00000492117.1:n.3213G>T
ENST00000541639.5:c.3414G>T	ENSP00000444293.1:p.Glu1138Asp
NM_001146705.1:c.3414G>T	NP_001140177.1:p.Glu1138Asp
NM_001146706.1:c.3150G>T	NP_001140178.1:p.Glu1050Asp
NM_004653.4:c.3321G>T	NP_004644.2:p.Glu1107Asp
XM_005262560.1:c.3186G>T	XP_005262617.1:p.Glu1062Asp
XM_005262561.1:c.3090G>T	XP_005262618.1:p.Glu1030Asp
XM_011531468.1:c.3243G>T	XP_011529770.1:p.Glu1081Asp
XR_244571.2:n.3609G>T
XR_430568.2:n.3943G>T
XM_005262560.3:c.3186G>T	XP_005262617.1:p.Glu1062Asp
XM_005262561.3:c.3090G>T	XP_005262618.1:p.Glu1030Asp
XM_011531468.3:c.3243G>T	XP_011529770.1:p.Glu1081Asp
XM_024452495.1:c.1311G>T	XP_024308263.1:p.Glu437Asp
XM_024452496.1:c.1077G>T	XP_024308264.1:p.Glu359Asp
XR_001756009.2:n.4059G>T
XR_001756010.2:n.4059G>T
XR_001756011.2:n.3924G>T
XR_001756012.2:n.4072G>T
XR_001756013.2:n.3390G>T
XR_002958832.1:n.3491G>T
XR_002958834.1:n.3715G>T
XR_002958835.1:n.3598G>T
XR_002958836.1:n.4281G>T
XR_002958837.1:n.4088G>T
XR_244571.4:n.3608G>T
XR_430568.4:n.3942G>T
NM_001146706.2:c.3150G>T	NP_001140178.1:p.Glu1050Asp
NM_004653.5:c.3321G>T MANE Select	NP_004644.2:p.Glu1107Asp
NM_001146705.2:c.3414G>T	NP_001140177.1:p.Glu1138Asp