Canonical Allele Identifier: CA414844389

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869867C>G (hg19) ; chrY:g.19707981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707981C>G , CM000686.2:g.19707981C>G	GRCh38
NC_000024.9:g.21869867C>G , CM000686.1:g.21869867C>G	GRCh37
NC_000024.8:g.20329255C>G	NCBI36
NG_032920.1:g.41959G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3352G>C MANE Select	ENSP00000322408.4:p.Glu1118Gln
ENST00000317961.8:c.3352G>C	ENSP00000322408.4:p.Glu1118Gln
ENST00000382806.6:c.3181G>C	ENSP00000372256.2:p.Glu1061Gln
ENST00000415360.1:c.268G>C	ENSP00000389433.1:p.Glu90Gln
ENST00000440077.5:c.3229G>C	ENSP00000398543.1:p.Glu1077Gln
ENST00000469599.6:n.1950G>C
ENST00000492117.1:n.3244G>C
ENST00000541639.5:c.3445G>C	ENSP00000444293.1:p.Glu1149Gln
NM_001146705.1:c.3445G>C	NP_001140177.1:p.Glu1149Gln
NM_001146706.1:c.3181G>C	NP_001140178.1:p.Glu1061Gln
NM_004653.4:c.3352G>C	NP_004644.2:p.Glu1118Gln
XM_005262560.1:c.3217G>C	XP_005262617.1:p.Glu1073Gln
XM_005262561.1:c.3121G>C	XP_005262618.1:p.Glu1041Gln
XM_011531468.1:c.3274G>C	XP_011529770.1:p.Glu1092Gln
XR_244571.2:n.3640G>C
XR_430568.2:n.3974G>C
XM_005262560.3:c.3217G>C	XP_005262617.1:p.Glu1073Gln
XM_005262561.3:c.3121G>C	XP_005262618.1:p.Glu1041Gln
XM_011531468.3:c.3274G>C	XP_011529770.1:p.Glu1092Gln
XM_024452495.1:c.1342G>C	XP_024308263.1:p.Glu448Gln
XM_024452496.1:c.1108G>C	XP_024308264.1:p.Glu370Gln
XR_001756009.2:n.4090G>C
XR_001756010.2:n.4090G>C
XR_001756011.2:n.3955G>C
XR_001756012.2:n.4103G>C
XR_001756013.2:n.3421G>C
XR_002958832.1:n.3522G>C
XR_002958834.1:n.3746G>C
XR_002958835.1:n.3629G>C
XR_002958836.1:n.4312G>C
XR_002958837.1:n.4119G>C
XR_244571.4:n.3639G>C
XR_430568.4:n.3973G>C
NM_001146706.2:c.3181G>C	NP_001140178.1:p.Glu1061Gln
NM_004653.5:c.3352G>C MANE Select	NP_004644.2:p.Glu1118Gln
NM_001146705.2:c.3445G>C	NP_001140177.1:p.Glu1149Gln