Canonical Allele Identifier: CA414843685

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869472A>C (hg19) ; chrY:g.19707586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707586A>C , CM000686.2:g.19707586A>C	GRCh38
NC_000024.9:g.21869472A>C , CM000686.1:g.21869472A>C	GRCh37
NC_000024.8:g.20328860A>C	NCBI36
NG_032920.1:g.42354T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3560T>G MANE Select	ENSP00000322408.4:p.Leu1187Arg
ENST00000317961.8:c.3560T>G	ENSP00000322408.4:p.Leu1187Arg
ENST00000382806.6:c.3389T>G	ENSP00000372256.2:p.Leu1130Arg
ENST00000415360.1:c.476T>G	ENSP00000389433.1:p.Leu159Arg
ENST00000440077.5:c.3437T>G	ENSP00000398543.1:p.Leu1146Arg
ENST00000469599.6:n.2158T>G
ENST00000492117.1:n.3452T>G
ENST00000541639.5:c.3653T>G	ENSP00000444293.1:p.Leu1218Arg
NM_001146705.1:c.3653T>G	NP_001140177.1:p.Leu1218Arg
NM_001146706.1:c.3389T>G	NP_001140178.1:p.Leu1130Arg
NM_004653.4:c.3560T>G	NP_004644.2:p.Leu1187Arg
XM_005262560.1:c.3425T>G	XP_005262617.1:p.Leu1142Arg
XM_005262561.1:c.3329T>G	XP_005262618.1:p.Leu1110Arg
XM_011531468.1:c.3482T>G	XP_011529770.1:p.Leu1161Arg
XR_244571.2:n.3848T>G
XR_430568.2:n.4182T>G
XM_005262560.3:c.3425T>G	XP_005262617.1:p.Leu1142Arg
XM_005262561.3:c.3329T>G	XP_005262618.1:p.Leu1110Arg
XM_011531468.3:c.3482T>G	XP_011529770.1:p.Leu1161Arg
XM_024452495.1:c.1550T>G	XP_024308263.1:p.Leu517Arg
XM_024452496.1:c.1316T>G	XP_024308264.1:p.Leu439Arg
XR_001756009.2:n.4298T>G
XR_001756010.2:n.4298T>G
XR_001756011.2:n.4163T>G
XR_001756012.2:n.4311T>G
XR_001756013.2:n.3629T>G
XR_002958832.1:n.3730T>G
XR_002958834.1:n.3954T>G
XR_002958835.1:n.3837T>G
XR_002958836.1:n.4520T>G
XR_002958837.1:n.4327T>G
XR_244571.4:n.3847T>G
XR_430568.4:n.4181T>G
NM_001146706.2:c.3389T>G	NP_001140178.1:p.Leu1130Arg
NM_004653.5:c.3560T>G MANE Select	NP_004644.2:p.Leu1187Arg
NM_001146705.2:c.3653T>G	NP_001140177.1:p.Leu1218Arg