Canonical Allele Identifier: CA520516752

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869465A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707579A>G , CM000686.2:g.19707579A>G	GRCh38
NC_000024.9:g.21869465A>G , CM000686.1:g.21869465A>G	GRCh37
NC_000024.8:g.20328853A>G	NCBI36
NG_032920.1:g.42361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3567T>C MANE Select	ENSP00000322408.4:p.Cys1189=
ENST00000317961.8:c.3567T>C	ENSP00000322408.4:p.Cys1189=
ENST00000382806.6:c.3396T>C	ENSP00000372256.2:p.Cys1132=
ENST00000415360.1:c.483T>C	ENSP00000389433.1:p.Cys161=
ENST00000440077.5:c.3444T>C	ENSP00000398543.1:p.Cys1148=
ENST00000469599.6:n.2165T>C
ENST00000492117.1:n.3459T>C
ENST00000541639.5:c.3660T>C	ENSP00000444293.1:p.Cys1220=
NM_001146705.1:c.3660T>C	NP_001140177.1:p.Cys1220=
NM_001146706.1:c.3396T>C	NP_001140178.1:p.Cys1132=
NM_004653.4:c.3567T>C	NP_004644.2:p.Cys1189=
XM_005262560.1:c.3432T>C	XP_005262617.1:p.Cys1144=
XM_005262561.1:c.3336T>C	XP_005262618.1:p.Cys1112=
XM_011531468.1:c.3489T>C	XP_011529770.1:p.Cys1163=
XR_244571.2:n.3855T>C
XR_430568.2:n.4189T>C
XM_005262560.3:c.3432T>C	XP_005262617.1:p.Cys1144=
XM_005262561.3:c.3336T>C	XP_005262618.1:p.Cys1112=
XM_011531468.3:c.3489T>C	XP_011529770.1:p.Cys1163=
XM_024452495.1:c.1557T>C	XP_024308263.1:p.Cys519=
XM_024452496.1:c.1323T>C	XP_024308264.1:p.Cys441=
XR_001756009.2:n.4305T>C
XR_001756010.2:n.4305T>C
XR_001756011.2:n.4170T>C
XR_001756012.2:n.4318T>C
XR_001756013.2:n.3636T>C
XR_002958832.1:n.3737T>C
XR_002958834.1:n.3961T>C
XR_002958835.1:n.3844T>C
XR_002958836.1:n.4527T>C
XR_002958837.1:n.4334T>C
XR_244571.4:n.3854T>C
XR_430568.4:n.4188T>C
NM_001146706.2:c.3396T>C	NP_001140178.1:p.Cys1132=
NM_004653.5:c.3567T>C MANE Select	NP_004644.2:p.Cys1189=
NM_001146705.2:c.3660T>C	NP_001140177.1:p.Cys1220=