Canonical Allele Identifier: CA520516674

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869441A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707555A>G , CM000686.2:g.19707555A>G	GRCh38
NC_000024.9:g.21869441A>G , CM000686.1:g.21869441A>G	GRCh37
NC_000024.8:g.20328829A>G	NCBI36
NG_032920.1:g.42385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3591T>C MANE Select	ENSP00000322408.4:p.His1197=
ENST00000317961.8:c.3591T>C	ENSP00000322408.4:p.His1197=
ENST00000382806.6:c.3420T>C	ENSP00000372256.2:p.His1140=
ENST00000415360.1:c.507T>C	ENSP00000389433.1:p.His169=
ENST00000440077.5:c.3468T>C	ENSP00000398543.1:p.His1156=
ENST00000469599.6:n.2189T>C
ENST00000492117.1:n.3483T>C
ENST00000541639.5:c.3684T>C	ENSP00000444293.1:p.His1228=
NM_001146705.1:c.3684T>C	NP_001140177.1:p.His1228=
NM_001146706.1:c.3420T>C	NP_001140178.1:p.His1140=
NM_004653.4:c.3591T>C	NP_004644.2:p.His1197=
XM_005262560.1:c.3456T>C	XP_005262617.1:p.His1152=
XM_005262561.1:c.3360T>C	XP_005262618.1:p.His1120=
XM_011531468.1:c.3513T>C	XP_011529770.1:p.His1171=
XR_244571.2:n.3879T>C
XR_430568.2:n.4213T>C
XM_005262560.3:c.3456T>C	XP_005262617.1:p.His1152=
XM_005262561.3:c.3360T>C	XP_005262618.1:p.His1120=
XM_011531468.3:c.3513T>C	XP_011529770.1:p.His1171=
XM_024452495.1:c.1581T>C	XP_024308263.1:p.His527=
XM_024452496.1:c.1347T>C	XP_024308264.1:p.His449=
XR_001756009.2:n.4329T>C
XR_001756010.2:n.4329T>C
XR_001756011.2:n.4194T>C
XR_001756012.2:n.4342T>C
XR_001756013.2:n.3660T>C
XR_002958832.1:n.3761T>C
XR_002958834.1:n.3985T>C
XR_002958835.1:n.3868T>C
XR_002958836.1:n.4551T>C
XR_002958837.1:n.4358T>C
XR_244571.4:n.3878T>C
XR_430568.4:n.4212T>C
NM_001146706.2:c.3420T>C	NP_001140178.1:p.His1140=
NM_004653.5:c.3591T>C MANE Select	NP_004644.2:p.His1197=
NM_001146705.2:c.3684T>C	NP_001140177.1:p.His1228=