Canonical Allele Identifier: CA414843206

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869343A>G (hg19) ; chrY:g.19707457A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707457A>G , CM000686.2:g.19707457A>G	GRCh38
NC_000024.9:g.21869343A>G , CM000686.1:g.21869343A>G	GRCh37
NC_000024.8:g.20328731A>G	NCBI36
NG_032920.1:g.42483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3689T>C MANE Select	ENSP00000322408.4:p.Leu1230Pro
ENST00000317961.8:c.3689T>C	ENSP00000322408.4:p.Leu1230Pro
ENST00000382806.6:c.3518T>C	ENSP00000372256.2:p.Leu1173Pro
ENST00000415360.1:c.605T>C	ENSP00000389433.1:p.Leu202Pro
ENST00000440077.5:c.3566T>C	ENSP00000398543.1:p.Leu1189Pro
ENST00000469599.6:n.2287T>C
ENST00000492117.1:n.3581T>C
ENST00000541639.5:c.3782T>C	ENSP00000444293.1:p.Leu1261Pro
NM_001146705.1:c.3782T>C	NP_001140177.1:p.Leu1261Pro
NM_001146706.1:c.3518T>C	NP_001140178.1:p.Leu1173Pro
NM_004653.4:c.3689T>C	NP_004644.2:p.Leu1230Pro
XM_005262560.1:c.3554T>C	XP_005262617.1:p.Leu1185Pro
XM_005262561.1:c.3458T>C	XP_005262618.1:p.Leu1153Pro
XM_011531468.1:c.3611T>C	XP_011529770.1:p.Leu1204Pro
XR_244571.2:n.3977T>C
XR_430568.2:n.4311T>C
XM_005262560.3:c.3554T>C	XP_005262617.1:p.Leu1185Pro
XM_005262561.3:c.3458T>C	XP_005262618.1:p.Leu1153Pro
XM_011531468.3:c.3611T>C	XP_011529770.1:p.Leu1204Pro
XM_024452495.1:c.1679T>C	XP_024308263.1:p.Leu560Pro
XM_024452496.1:c.1445T>C	XP_024308264.1:p.Leu482Pro
XR_001756009.2:n.4427T>C
XR_001756010.2:n.4427T>C
XR_001756011.2:n.4292T>C
XR_001756012.2:n.4440T>C
XR_001756013.2:n.3758T>C
XR_002958832.1:n.3859T>C
XR_002958834.1:n.4083T>C
XR_002958835.1:n.3966T>C
XR_002958836.1:n.4649T>C
XR_002958837.1:n.4456T>C
XR_244571.4:n.3976T>C
XR_430568.4:n.4310T>C
NM_001146706.2:c.3518T>C	NP_001140178.1:p.Leu1173Pro
NM_004653.5:c.3689T>C MANE Select	NP_004644.2:p.Leu1230Pro
NM_001146705.2:c.3782T>C	NP_001140177.1:p.Leu1261Pro