Canonical Allele Identifier: CA520516456

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869333C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707447C>G , CM000686.2:g.19707447C>G	GRCh38
NC_000024.9:g.21869333C>G , CM000686.1:g.21869333C>G	GRCh37
NC_000024.8:g.20328721C>G	NCBI36
NG_032920.1:g.42493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3699G>C MANE Select	ENSP00000322408.4:p.Leu1233=
ENST00000317961.8:c.3699G>C	ENSP00000322408.4:p.Leu1233=
ENST00000382806.6:c.3528G>C	ENSP00000372256.2:p.Leu1176=
ENST00000415360.1:c.615G>C	ENSP00000389433.1:p.Leu205=
ENST00000440077.5:c.3576G>C	ENSP00000398543.1:p.Leu1192=
ENST00000469599.6:n.2297G>C
ENST00000492117.1:n.3591G>C
ENST00000541639.5:c.3792G>C	ENSP00000444293.1:p.Leu1264=
NM_001146705.1:c.3792G>C	NP_001140177.1:p.Leu1264=
NM_001146706.1:c.3528G>C	NP_001140178.1:p.Leu1176=
NM_004653.4:c.3699G>C	NP_004644.2:p.Leu1233=
XM_005262560.1:c.3564G>C	XP_005262617.1:p.Leu1188=
XM_005262561.1:c.3468G>C	XP_005262618.1:p.Leu1156=
XM_011531468.1:c.3621G>C	XP_011529770.1:p.Leu1207=
XR_244571.2:n.3987G>C
XR_430568.2:n.4321G>C
XM_005262560.3:c.3564G>C	XP_005262617.1:p.Leu1188=
XM_005262561.3:c.3468G>C	XP_005262618.1:p.Leu1156=
XM_011531468.3:c.3621G>C	XP_011529770.1:p.Leu1207=
XM_024452495.1:c.1689G>C	XP_024308263.1:p.Leu563=
XM_024452496.1:c.1455G>C	XP_024308264.1:p.Leu485=
XR_001756009.2:n.4437G>C
XR_001756010.2:n.4437G>C
XR_001756011.2:n.4302G>C
XR_001756012.2:n.4450G>C
XR_001756013.2:n.3768G>C
XR_002958832.1:n.3869G>C
XR_002958834.1:n.4093G>C
XR_002958835.1:n.3976G>C
XR_002958836.1:n.4659G>C
XR_002958837.1:n.4466G>C
XR_244571.4:n.3986G>C
XR_430568.4:n.4320G>C
NM_001146706.2:c.3528G>C	NP_001140178.1:p.Leu1176=
NM_004653.5:c.3699G>C MANE Select	NP_004644.2:p.Leu1233=
NM_001146705.2:c.3792G>C	NP_001140177.1:p.Leu1264=