Canonical Allele Identifier: CA414844422

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869876A>G (hg19) ; chrY:g.19707990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707990A>G , CM000686.2:g.19707990A>G	GRCh38
NC_000024.9:g.21869876A>G , CM000686.1:g.21869876A>G	GRCh37
NC_000024.8:g.20329264A>G	NCBI36
NG_032920.1:g.41950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3343T>C MANE Select	ENSP00000322408.4:p.Cys1115Arg
ENST00000317961.8:c.3343T>C	ENSP00000322408.4:p.Cys1115Arg
ENST00000382806.6:c.3172T>C	ENSP00000372256.2:p.Cys1058Arg
ENST00000415360.1:c.259T>C	ENSP00000389433.1:p.Cys87Arg
ENST00000440077.5:c.3220T>C	ENSP00000398543.1:p.Cys1074Arg
ENST00000469599.6:n.1941T>C
ENST00000492117.1:n.3235T>C
ENST00000541639.5:c.3436T>C	ENSP00000444293.1:p.Cys1146Arg
NM_001146705.1:c.3436T>C	NP_001140177.1:p.Cys1146Arg
NM_001146706.1:c.3172T>C	NP_001140178.1:p.Cys1058Arg
NM_004653.4:c.3343T>C	NP_004644.2:p.Cys1115Arg
XM_005262560.1:c.3208T>C	XP_005262617.1:p.Cys1070Arg
XM_005262561.1:c.3112T>C	XP_005262618.1:p.Cys1038Arg
XM_011531468.1:c.3265T>C	XP_011529770.1:p.Cys1089Arg
XR_244571.2:n.3631T>C
XR_430568.2:n.3965T>C
XM_005262560.3:c.3208T>C	XP_005262617.1:p.Cys1070Arg
XM_005262561.3:c.3112T>C	XP_005262618.1:p.Cys1038Arg
XM_011531468.3:c.3265T>C	XP_011529770.1:p.Cys1089Arg
XM_024452495.1:c.1333T>C	XP_024308263.1:p.Cys445Arg
XM_024452496.1:c.1099T>C	XP_024308264.1:p.Cys367Arg
XR_001756009.2:n.4081T>C
XR_001756010.2:n.4081T>C
XR_001756011.2:n.3946T>C
XR_001756012.2:n.4094T>C
XR_001756013.2:n.3412T>C
XR_002958832.1:n.3513T>C
XR_002958834.1:n.3737T>C
XR_002958835.1:n.3620T>C
XR_002958836.1:n.4303T>C
XR_002958837.1:n.4110T>C
XR_244571.4:n.3630T>C
XR_430568.4:n.3964T>C
NM_001146706.2:c.3172T>C	NP_001140178.1:p.Cys1058Arg
NM_004653.5:c.3343T>C MANE Select	NP_004644.2:p.Cys1115Arg
NM_001146705.2:c.3436T>C	NP_001140177.1:p.Cys1146Arg