Canonical Allele Identifier: CA414843462

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869416G>C (hg19) ; chrY:g.19707530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707530G>C , CM000686.2:g.19707530G>C	GRCh38
NC_000024.9:g.21869416G>C , CM000686.1:g.21869416G>C	GRCh37
NC_000024.8:g.20328804G>C	NCBI36
NG_032920.1:g.42410C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3616C>G MANE Select	ENSP00000322408.4:p.Leu1206Val
ENST00000317961.8:c.3616C>G	ENSP00000322408.4:p.Leu1206Val
ENST00000382806.6:c.3445C>G	ENSP00000372256.2:p.Leu1149Val
ENST00000415360.1:c.532C>G	ENSP00000389433.1:p.Leu178Val
ENST00000440077.5:c.3493C>G	ENSP00000398543.1:p.Leu1165Val
ENST00000469599.6:n.2214C>G
ENST00000492117.1:n.3508C>G
ENST00000541639.5:c.3709C>G	ENSP00000444293.1:p.Leu1237Val
NM_001146705.1:c.3709C>G	NP_001140177.1:p.Leu1237Val
NM_001146706.1:c.3445C>G	NP_001140178.1:p.Leu1149Val
NM_004653.4:c.3616C>G	NP_004644.2:p.Leu1206Val
XM_005262560.1:c.3481C>G	XP_005262617.1:p.Leu1161Val
XM_005262561.1:c.3385C>G	XP_005262618.1:p.Leu1129Val
XM_011531468.1:c.3538C>G	XP_011529770.1:p.Leu1180Val
XR_244571.2:n.3904C>G
XR_430568.2:n.4238C>G
XM_005262560.3:c.3481C>G	XP_005262617.1:p.Leu1161Val
XM_005262561.3:c.3385C>G	XP_005262618.1:p.Leu1129Val
XM_011531468.3:c.3538C>G	XP_011529770.1:p.Leu1180Val
XM_024452495.1:c.1606C>G	XP_024308263.1:p.Leu536Val
XM_024452496.1:c.1372C>G	XP_024308264.1:p.Leu458Val
XR_001756009.2:n.4354C>G
XR_001756010.2:n.4354C>G
XR_001756011.2:n.4219C>G
XR_001756012.2:n.4367C>G
XR_001756013.2:n.3685C>G
XR_002958832.1:n.3786C>G
XR_002958834.1:n.4010C>G
XR_002958835.1:n.3893C>G
XR_002958836.1:n.4576C>G
XR_002958837.1:n.4383C>G
XR_244571.4:n.3903C>G
XR_430568.4:n.4237C>G
NM_001146706.2:c.3445C>G	NP_001140178.1:p.Leu1149Val
NM_004653.5:c.3616C>G MANE Select	NP_004644.2:p.Leu1206Val
NM_001146705.2:c.3709C>G	NP_001140177.1:p.Leu1237Val