Canonical Allele Identifier: CA414843459

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3616C>T MANE Select	ENSP00000322408.4:p.Leu1206Phe
ENST00000317961.8:c.3616C>T	ENSP00000322408.4:p.Leu1206Phe
ENST00000382806.6:c.3445C>T	ENSP00000372256.2:p.Leu1149Phe
ENST00000415360.1:c.532C>T	ENSP00000389433.1:p.Leu178Phe
ENST00000440077.5:c.3493C>T	ENSP00000398543.1:p.Leu1165Phe
ENST00000469599.6:n.2214C>T
ENST00000492117.1:n.3508C>T
ENST00000541639.5:c.3709C>T	ENSP00000444293.1:p.Leu1237Phe
NM_001146705.1:c.3709C>T	NP_001140177.1:p.Leu1237Phe
NM_001146706.1:c.3445C>T	NP_001140178.1:p.Leu1149Phe
NM_004653.4:c.3616C>T	NP_004644.2:p.Leu1206Phe
XM_005262560.1:c.3481C>T	XP_005262617.1:p.Leu1161Phe
XM_005262561.1:c.3385C>T	XP_005262618.1:p.Leu1129Phe
XM_011531468.1:c.3538C>T	XP_011529770.1:p.Leu1180Phe
XR_244571.2:n.3904C>T
XR_430568.2:n.4238C>T
XM_005262560.3:c.3481C>T	XP_005262617.1:p.Leu1161Phe
XM_005262561.3:c.3385C>T	XP_005262618.1:p.Leu1129Phe
XM_011531468.3:c.3538C>T	XP_011529770.1:p.Leu1180Phe
XM_024452495.1:c.1606C>T	XP_024308263.1:p.Leu536Phe
XM_024452496.1:c.1372C>T	XP_024308264.1:p.Leu458Phe
XR_001756009.2:n.4354C>T
XR_001756010.2:n.4354C>T
XR_001756011.2:n.4219C>T
XR_001756012.2:n.4367C>T
XR_001756013.2:n.3685C>T
XR_002958832.1:n.3786C>T
XR_002958834.1:n.4010C>T
XR_002958835.1:n.3893C>T
XR_002958836.1:n.4576C>T
XR_002958837.1:n.4383C>T
XR_244571.4:n.3903C>T
XR_430568.4:n.4237C>T
NM_001146706.2:c.3445C>T	NP_001140178.1:p.Leu1149Phe
NM_004653.5:c.3616C>T MANE Select	NP_004644.2:p.Leu1206Phe
NM_001146705.2:c.3709C>T	NP_001140177.1:p.Leu1237Phe