Canonical Allele Identifier: CA414844456

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869884A>C (hg19) ; chrY:g.19707998A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707998A>C , CM000686.2:g.19707998A>C	GRCh38
NC_000024.9:g.21869884A>C , CM000686.1:g.21869884A>C	GRCh37
NC_000024.8:g.20329272A>C	NCBI36
NG_032920.1:g.41942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3335T>G MANE Select	ENSP00000322408.4:p.Leu1112Trp
ENST00000317961.8:c.3335T>G	ENSP00000322408.4:p.Leu1112Trp
ENST00000382806.6:c.3164T>G	ENSP00000372256.2:p.Leu1055Trp
ENST00000415360.1:c.251T>G	ENSP00000389433.1:p.Leu84Trp
ENST00000440077.5:c.3212T>G	ENSP00000398543.1:p.Leu1071Trp
ENST00000469599.6:n.1933T>G
ENST00000492117.1:n.3227T>G
ENST00000541639.5:c.3428T>G	ENSP00000444293.1:p.Leu1143Trp
NM_001146705.1:c.3428T>G	NP_001140177.1:p.Leu1143Trp
NM_001146706.1:c.3164T>G	NP_001140178.1:p.Leu1055Trp
NM_004653.4:c.3335T>G	NP_004644.2:p.Leu1112Trp
XM_005262560.1:c.3200T>G	XP_005262617.1:p.Leu1067Trp
XM_005262561.1:c.3104T>G	XP_005262618.1:p.Leu1035Trp
XM_011531468.1:c.3257T>G	XP_011529770.1:p.Leu1086Trp
XR_244571.2:n.3623T>G
XR_430568.2:n.3957T>G
XM_005262560.3:c.3200T>G	XP_005262617.1:p.Leu1067Trp
XM_005262561.3:c.3104T>G	XP_005262618.1:p.Leu1035Trp
XM_011531468.3:c.3257T>G	XP_011529770.1:p.Leu1086Trp
XM_024452495.1:c.1325T>G	XP_024308263.1:p.Leu442Trp
XM_024452496.1:c.1091T>G	XP_024308264.1:p.Leu364Trp
XR_001756009.2:n.4073T>G
XR_001756010.2:n.4073T>G
XR_001756011.2:n.3938T>G
XR_001756012.2:n.4086T>G
XR_001756013.2:n.3404T>G
XR_002958832.1:n.3505T>G
XR_002958834.1:n.3729T>G
XR_002958835.1:n.3612T>G
XR_002958836.1:n.4295T>G
XR_002958837.1:n.4102T>G
XR_244571.4:n.3622T>G
XR_430568.4:n.3956T>G
NM_001146706.2:c.3164T>G	NP_001140178.1:p.Leu1055Trp
NM_004653.5:c.3335T>G MANE Select	NP_004644.2:p.Leu1112Trp
NM_001146705.2:c.3428T>G	NP_001140177.1:p.Leu1143Trp