Canonical Allele Identifier: CA520160825

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869853C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707967C>G , CM000686.2:g.19707967C>G	GRCh38
NC_000024.9:g.21869853C>G , CM000686.1:g.21869853C>G	GRCh37
NC_000024.8:g.20329241C>G	NCBI36
NG_032920.1:g.41973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3366G>C MANE Select	ENSP00000322408.4:p.Leu1122=
ENST00000317961.8:c.3366G>C	ENSP00000322408.4:p.Leu1122=
ENST00000382806.6:c.3195G>C	ENSP00000372256.2:p.Leu1065=
ENST00000415360.1:c.282G>C	ENSP00000389433.1:p.Leu94=
ENST00000440077.5:c.3243G>C	ENSP00000398543.1:p.Leu1081=
ENST00000469599.6:n.1964G>C
ENST00000492117.1:n.3258G>C
ENST00000541639.5:c.3459G>C	ENSP00000444293.1:p.Leu1153=
NM_001146705.1:c.3459G>C	NP_001140177.1:p.Leu1153=
NM_001146706.1:c.3195G>C	NP_001140178.1:p.Leu1065=
NM_004653.4:c.3366G>C	NP_004644.2:p.Leu1122=
XM_005262560.1:c.3231G>C	XP_005262617.1:p.Leu1077=
XM_005262561.1:c.3135G>C	XP_005262618.1:p.Leu1045=
XM_011531468.1:c.3288G>C	XP_011529770.1:p.Leu1096=
XR_244571.2:n.3654G>C
XR_430568.2:n.3988G>C
XM_005262560.3:c.3231G>C	XP_005262617.1:p.Leu1077=
XM_005262561.3:c.3135G>C	XP_005262618.1:p.Leu1045=
XM_011531468.3:c.3288G>C	XP_011529770.1:p.Leu1096=
XM_024452495.1:c.1356G>C	XP_024308263.1:p.Leu452=
XM_024452496.1:c.1122G>C	XP_024308264.1:p.Leu374=
XR_001756009.2:n.4104G>C
XR_001756010.2:n.4104G>C
XR_001756011.2:n.3969G>C
XR_001756012.2:n.4117G>C
XR_001756013.2:n.3435G>C
XR_002958832.1:n.3536G>C
XR_002958834.1:n.3760G>C
XR_002958835.1:n.3643G>C
XR_002958836.1:n.4326G>C
XR_002958837.1:n.4133G>C
XR_244571.4:n.3653G>C
XR_430568.4:n.3987G>C
NM_001146706.2:c.3195G>C	NP_001140178.1:p.Leu1065=
NM_004653.5:c.3366G>C MANE Select	NP_004644.2:p.Leu1122=
NM_001146705.2:c.3459G>C	NP_001140177.1:p.Leu1153=