Canonical Allele Identifier: CA520516440

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869315C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707429C>G , CM000686.2:g.19707429C>G	GRCh38
NC_000024.9:g.21869315C>G , CM000686.1:g.21869315C>G	GRCh37
NC_000024.8:g.20328703C>G	NCBI36
NG_032920.1:g.42511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3717G>C MANE Select	ENSP00000322408.4:p.Arg1239=
ENST00000317961.8:c.3717G>C	ENSP00000322408.4:p.Arg1239=
ENST00000382806.6:c.3546G>C	ENSP00000372256.2:p.Arg1182=
ENST00000415360.1:c.633G>C	ENSP00000389433.1:p.Arg211=
ENST00000440077.5:c.3594G>C	ENSP00000398543.1:p.Arg1198=
ENST00000469599.6:n.2315G>C
ENST00000492117.1:n.3609G>C
ENST00000541639.5:c.3810G>C	ENSP00000444293.1:p.Arg1270=
NM_001146705.1:c.3810G>C	NP_001140177.1:p.Arg1270=
NM_001146706.1:c.3546G>C	NP_001140178.1:p.Arg1182=
NM_004653.4:c.3717G>C	NP_004644.2:p.Arg1239=
XM_005262560.1:c.3582G>C	XP_005262617.1:p.Arg1194=
XM_005262561.1:c.3486G>C	XP_005262618.1:p.Arg1162=
XM_011531468.1:c.3639G>C	XP_011529770.1:p.Arg1213=
XR_244571.2:n.4005G>C
XR_430568.2:n.4339G>C
XM_005262560.3:c.3582G>C	XP_005262617.1:p.Arg1194=
XM_005262561.3:c.3486G>C	XP_005262618.1:p.Arg1162=
XM_011531468.3:c.3639G>C	XP_011529770.1:p.Arg1213=
XM_024452495.1:c.1707G>C	XP_024308263.1:p.Arg569=
XM_024452496.1:c.1473G>C	XP_024308264.1:p.Arg491=
XR_001756009.2:n.4455G>C
XR_001756010.2:n.4455G>C
XR_001756011.2:n.4320G>C
XR_001756012.2:n.4468G>C
XR_001756013.2:n.3786G>C
XR_002958832.1:n.3887G>C
XR_002958834.1:n.4111G>C
XR_002958835.1:n.3994G>C
XR_002958836.1:n.4677G>C
XR_002958837.1:n.4484G>C
XR_244571.4:n.4004G>C
XR_430568.4:n.4338G>C
NM_001146706.2:c.3546G>C	NP_001140178.1:p.Arg1182=
NM_004653.5:c.3717G>C MANE Select	NP_004644.2:p.Arg1239=
NM_001146705.2:c.3810G>C	NP_001140177.1:p.Arg1270=