Canonical Allele Identifier: CA414843200

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869341A>G (hg19) ; chrY:g.19707455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707455A>G , CM000686.2:g.19707455A>G	GRCh38
NC_000024.9:g.21869341A>G , CM000686.1:g.21869341A>G	GRCh37
NC_000024.8:g.20328729A>G	NCBI36
NG_032920.1:g.42485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3691T>C MANE Select	ENSP00000322408.4:p.Cys1231Arg
ENST00000317961.8:c.3691T>C	ENSP00000322408.4:p.Cys1231Arg
ENST00000382806.6:c.3520T>C	ENSP00000372256.2:p.Cys1174Arg
ENST00000415360.1:c.607T>C	ENSP00000389433.1:p.Cys203Arg
ENST00000440077.5:c.3568T>C	ENSP00000398543.1:p.Cys1190Arg
ENST00000469599.6:n.2289T>C
ENST00000492117.1:n.3583T>C
ENST00000541639.5:c.3784T>C	ENSP00000444293.1:p.Cys1262Arg
NM_001146705.1:c.3784T>C	NP_001140177.1:p.Cys1262Arg
NM_001146706.1:c.3520T>C	NP_001140178.1:p.Cys1174Arg
NM_004653.4:c.3691T>C	NP_004644.2:p.Cys1231Arg
XM_005262560.1:c.3556T>C	XP_005262617.1:p.Cys1186Arg
XM_005262561.1:c.3460T>C	XP_005262618.1:p.Cys1154Arg
XM_011531468.1:c.3613T>C	XP_011529770.1:p.Cys1205Arg
XR_244571.2:n.3979T>C
XR_430568.2:n.4313T>C
XM_005262560.3:c.3556T>C	XP_005262617.1:p.Cys1186Arg
XM_005262561.3:c.3460T>C	XP_005262618.1:p.Cys1154Arg
XM_011531468.3:c.3613T>C	XP_011529770.1:p.Cys1205Arg
XM_024452495.1:c.1681T>C	XP_024308263.1:p.Cys561Arg
XM_024452496.1:c.1447T>C	XP_024308264.1:p.Cys483Arg
XR_001756009.2:n.4429T>C
XR_001756010.2:n.4429T>C
XR_001756011.2:n.4294T>C
XR_001756012.2:n.4442T>C
XR_001756013.2:n.3760T>C
XR_002958832.1:n.3861T>C
XR_002958834.1:n.4085T>C
XR_002958835.1:n.3968T>C
XR_002958836.1:n.4651T>C
XR_002958837.1:n.4458T>C
XR_244571.4:n.3978T>C
XR_430568.4:n.4312T>C
NM_001146706.2:c.3520T>C	NP_001140178.1:p.Cys1174Arg
NM_004653.5:c.3691T>C MANE Select	NP_004644.2:p.Cys1231Arg
NM_001146705.2:c.3784T>C	NP_001140177.1:p.Cys1262Arg