Canonical Allele Identifier: CA414843812

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869507A>C (hg19) ; chrY:g.19707621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707621A>C , CM000686.2:g.19707621A>C	GRCh38
NC_000024.9:g.21869507A>C , CM000686.1:g.21869507A>C	GRCh37
NC_000024.8:g.20328895A>C	NCBI36
NG_032920.1:g.42319T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3525T>G MANE Select	ENSP00000322408.4:p.Cys1175Trp
ENST00000317961.8:c.3525T>G	ENSP00000322408.4:p.Cys1175Trp
ENST00000382806.6:c.3354T>G	ENSP00000372256.2:p.Cys1118Trp
ENST00000415360.1:c.441T>G	ENSP00000389433.1:p.Cys147Trp
ENST00000440077.5:c.3402T>G	ENSP00000398543.1:p.Cys1134Trp
ENST00000469599.6:n.2123T>G
ENST00000492117.1:n.3417T>G
ENST00000541639.5:c.3618T>G	ENSP00000444293.1:p.Cys1206Trp
NM_001146705.1:c.3618T>G	NP_001140177.1:p.Cys1206Trp
NM_001146706.1:c.3354T>G	NP_001140178.1:p.Cys1118Trp
NM_004653.4:c.3525T>G	NP_004644.2:p.Cys1175Trp
XM_005262560.1:c.3390T>G	XP_005262617.1:p.Cys1130Trp
XM_005262561.1:c.3294T>G	XP_005262618.1:p.Cys1098Trp
XM_011531468.1:c.3447T>G	XP_011529770.1:p.Cys1149Trp
XR_244571.2:n.3813T>G
XR_430568.2:n.4147T>G
XM_005262560.3:c.3390T>G	XP_005262617.1:p.Cys1130Trp
XM_005262561.3:c.3294T>G	XP_005262618.1:p.Cys1098Trp
XM_011531468.3:c.3447T>G	XP_011529770.1:p.Cys1149Trp
XM_024452495.1:c.1515T>G	XP_024308263.1:p.Cys505Trp
XM_024452496.1:c.1281T>G	XP_024308264.1:p.Cys427Trp
XR_001756009.2:n.4263T>G
XR_001756010.2:n.4263T>G
XR_001756011.2:n.4128T>G
XR_001756012.2:n.4276T>G
XR_001756013.2:n.3594T>G
XR_002958832.1:n.3695T>G
XR_002958834.1:n.3919T>G
XR_002958835.1:n.3802T>G
XR_002958836.1:n.4485T>G
XR_002958837.1:n.4292T>G
XR_244571.4:n.3812T>G
XR_430568.4:n.4146T>G
NM_001146706.2:c.3354T>G	NP_001140178.1:p.Cys1118Trp
NM_004653.5:c.3525T>G MANE Select	NP_004644.2:p.Cys1175Trp
NM_001146705.2:c.3618T>G	NP_001140177.1:p.Cys1206Trp