Canonical Allele Identifier: CA414843289

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869365A>G (hg19) ; chrY:g.19707479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707479A>G , CM000686.2:g.19707479A>G	GRCh38
NC_000024.9:g.21869365A>G , CM000686.1:g.21869365A>G	GRCh37
NC_000024.8:g.20328753A>G	NCBI36
NG_032920.1:g.42461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3667T>C MANE Select	ENSP00000322408.4:p.Trp1223Arg
ENST00000317961.8:c.3667T>C	ENSP00000322408.4:p.Trp1223Arg
ENST00000382806.6:c.3496T>C	ENSP00000372256.2:p.Trp1166Arg
ENST00000415360.1:c.583T>C	ENSP00000389433.1:p.Trp195Arg
ENST00000440077.5:c.3544T>C	ENSP00000398543.1:p.Trp1182Arg
ENST00000469599.6:n.2265T>C
ENST00000492117.1:n.3559T>C
ENST00000541639.5:c.3760T>C	ENSP00000444293.1:p.Trp1254Arg
NM_001146705.1:c.3760T>C	NP_001140177.1:p.Trp1254Arg
NM_001146706.1:c.3496T>C	NP_001140178.1:p.Trp1166Arg
NM_004653.4:c.3667T>C	NP_004644.2:p.Trp1223Arg
XM_005262560.1:c.3532T>C	XP_005262617.1:p.Trp1178Arg
XM_005262561.1:c.3436T>C	XP_005262618.1:p.Trp1146Arg
XM_011531468.1:c.3589T>C	XP_011529770.1:p.Trp1197Arg
XR_244571.2:n.3955T>C
XR_430568.2:n.4289T>C
XM_005262560.3:c.3532T>C	XP_005262617.1:p.Trp1178Arg
XM_005262561.3:c.3436T>C	XP_005262618.1:p.Trp1146Arg
XM_011531468.3:c.3589T>C	XP_011529770.1:p.Trp1197Arg
XM_024452495.1:c.1657T>C	XP_024308263.1:p.Trp553Arg
XM_024452496.1:c.1423T>C	XP_024308264.1:p.Trp475Arg
XR_001756009.2:n.4405T>C
XR_001756010.2:n.4405T>C
XR_001756011.2:n.4270T>C
XR_001756012.2:n.4418T>C
XR_001756013.2:n.3736T>C
XR_002958832.1:n.3837T>C
XR_002958834.1:n.4061T>C
XR_002958835.1:n.3944T>C
XR_002958836.1:n.4627T>C
XR_002958837.1:n.4434T>C
XR_244571.4:n.3954T>C
XR_430568.4:n.4288T>C
NM_001146706.2:c.3496T>C	NP_001140178.1:p.Trp1166Arg
NM_004653.5:c.3667T>C MANE Select	NP_004644.2:p.Trp1223Arg
NM_001146705.2:c.3760T>C	NP_001140177.1:p.Trp1254Arg