Canonical Allele Identifier: CA414844289

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869836C>G (hg19) ; chrY:g.19707950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707950C>G , CM000686.2:g.19707950C>G	GRCh38
NC_000024.9:g.21869836C>G , CM000686.1:g.21869836C>G	GRCh37
NC_000024.8:g.20329224C>G	NCBI36
NG_032920.1:g.41990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3383G>C MANE Select	ENSP00000322408.4:p.Arg1128Thr
ENST00000317961.8:c.3383G>C	ENSP00000322408.4:p.Arg1128Thr
ENST00000382806.6:c.3212G>C	ENSP00000372256.2:p.Arg1071Thr
ENST00000415360.1:c.299G>C	ENSP00000389433.1:p.Arg100Thr
ENST00000440077.5:c.3260G>C	ENSP00000398543.1:p.Arg1087Thr
ENST00000469599.6:n.1981G>C
ENST00000492117.1:n.3275G>C
ENST00000541639.5:c.3476G>C	ENSP00000444293.1:p.Arg1159Thr
NM_001146705.1:c.3476G>C	NP_001140177.1:p.Arg1159Thr
NM_001146706.1:c.3212G>C	NP_001140178.1:p.Arg1071Thr
NM_004653.4:c.3383G>C	NP_004644.2:p.Arg1128Thr
XM_005262560.1:c.3248G>C	XP_005262617.1:p.Arg1083Thr
XM_005262561.1:c.3152G>C	XP_005262618.1:p.Arg1051Thr
XM_011531468.1:c.3305G>C	XP_011529770.1:p.Arg1102Thr
XR_244571.2:n.3671G>C
XR_430568.2:n.4005G>C
XM_005262560.3:c.3248G>C	XP_005262617.1:p.Arg1083Thr
XM_005262561.3:c.3152G>C	XP_005262618.1:p.Arg1051Thr
XM_011531468.3:c.3305G>C	XP_011529770.1:p.Arg1102Thr
XM_024452495.1:c.1373G>C	XP_024308263.1:p.Arg458Thr
XM_024452496.1:c.1139G>C	XP_024308264.1:p.Arg380Thr
XR_001756009.2:n.4121G>C
XR_001756010.2:n.4121G>C
XR_001756011.2:n.3986G>C
XR_001756012.2:n.4134G>C
XR_001756013.2:n.3452G>C
XR_002958832.1:n.3553G>C
XR_002958834.1:n.3777G>C
XR_002958835.1:n.3660G>C
XR_002958836.1:n.4343G>C
XR_002958837.1:n.4150G>C
XR_244571.4:n.3670G>C
XR_430568.4:n.4004G>C
NM_001146706.2:c.3212G>C	NP_001140178.1:p.Arg1071Thr
NM_004653.5:c.3383G>C MANE Select	NP_004644.2:p.Arg1128Thr
NM_001146705.2:c.3476G>C	NP_001140177.1:p.Arg1159Thr