Canonical Allele Identifier: CA414843407

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869401T>C (hg19) ; chrY:g.19707515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707515T>C , CM000686.2:g.19707515T>C	GRCh38
NC_000024.9:g.21869401T>C , CM000686.1:g.21869401T>C	GRCh37
NC_000024.8:g.20328789T>C	NCBI36
NG_032920.1:g.42425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3631A>G MANE Select	ENSP00000322408.4:p.Lys1211Glu
ENST00000317961.8:c.3631A>G	ENSP00000322408.4:p.Lys1211Glu
ENST00000382806.6:c.3460A>G	ENSP00000372256.2:p.Lys1154Glu
ENST00000415360.1:c.547A>G	ENSP00000389433.1:p.Lys183Glu
ENST00000440077.5:c.3508A>G	ENSP00000398543.1:p.Lys1170Glu
ENST00000469599.6:n.2229A>G
ENST00000492117.1:n.3523A>G
ENST00000541639.5:c.3724A>G	ENSP00000444293.1:p.Lys1242Glu
NM_001146705.1:c.3724A>G	NP_001140177.1:p.Lys1242Glu
NM_001146706.1:c.3460A>G	NP_001140178.1:p.Lys1154Glu
NM_004653.4:c.3631A>G	NP_004644.2:p.Lys1211Glu
XM_005262560.1:c.3496A>G	XP_005262617.1:p.Lys1166Glu
XM_005262561.1:c.3400A>G	XP_005262618.1:p.Lys1134Glu
XM_011531468.1:c.3553A>G	XP_011529770.1:p.Lys1185Glu
XR_244571.2:n.3919A>G
XR_430568.2:n.4253A>G
XM_005262560.3:c.3496A>G	XP_005262617.1:p.Lys1166Glu
XM_005262561.3:c.3400A>G	XP_005262618.1:p.Lys1134Glu
XM_011531468.3:c.3553A>G	XP_011529770.1:p.Lys1185Glu
XM_024452495.1:c.1621A>G	XP_024308263.1:p.Lys541Glu
XM_024452496.1:c.1387A>G	XP_024308264.1:p.Lys463Glu
XR_001756009.2:n.4369A>G
XR_001756010.2:n.4369A>G
XR_001756011.2:n.4234A>G
XR_001756012.2:n.4382A>G
XR_001756013.2:n.3700A>G
XR_002958832.1:n.3801A>G
XR_002958834.1:n.4025A>G
XR_002958835.1:n.3908A>G
XR_002958836.1:n.4591A>G
XR_002958837.1:n.4398A>G
XR_244571.4:n.3918A>G
XR_430568.4:n.4252A>G
NM_001146706.2:c.3460A>G	NP_001140178.1:p.Lys1154Glu
NM_004653.5:c.3631A>G MANE Select	NP_004644.2:p.Lys1211Glu
NM_001146705.2:c.3724A>G	NP_001140177.1:p.Lys1242Glu