Canonical Allele Identifier: CA520516523

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869381A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707495A>C , CM000686.2:g.19707495A>C	GRCh38
NC_000024.9:g.21869381A>C , CM000686.1:g.21869381A>C	GRCh37
NC_000024.8:g.20328769A>C	NCBI36
NG_032920.1:g.42445T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3651T>G MANE Select	ENSP00000322408.4:p.Ser1217=
ENST00000317961.8:c.3651T>G	ENSP00000322408.4:p.Ser1217=
ENST00000382806.6:c.3480T>G	ENSP00000372256.2:p.Ser1160=
ENST00000415360.1:c.567T>G	ENSP00000389433.1:p.Ser189=
ENST00000440077.5:c.3528T>G	ENSP00000398543.1:p.Ser1176=
ENST00000469599.6:n.2249T>G
ENST00000492117.1:n.3543T>G
ENST00000541639.5:c.3744T>G	ENSP00000444293.1:p.Ser1248=
NM_001146705.1:c.3744T>G	NP_001140177.1:p.Ser1248=
NM_001146706.1:c.3480T>G	NP_001140178.1:p.Ser1160=
NM_004653.4:c.3651T>G	NP_004644.2:p.Ser1217=
XM_005262560.1:c.3516T>G	XP_005262617.1:p.Ser1172=
XM_005262561.1:c.3420T>G	XP_005262618.1:p.Ser1140=
XM_011531468.1:c.3573T>G	XP_011529770.1:p.Ser1191=
XR_244571.2:n.3939T>G
XR_430568.2:n.4273T>G
XM_005262560.3:c.3516T>G	XP_005262617.1:p.Ser1172=
XM_005262561.3:c.3420T>G	XP_005262618.1:p.Ser1140=
XM_011531468.3:c.3573T>G	XP_011529770.1:p.Ser1191=
XM_024452495.1:c.1641T>G	XP_024308263.1:p.Ser547=
XM_024452496.1:c.1407T>G	XP_024308264.1:p.Ser469=
XR_001756009.2:n.4389T>G
XR_001756010.2:n.4389T>G
XR_001756011.2:n.4254T>G
XR_001756012.2:n.4402T>G
XR_001756013.2:n.3720T>G
XR_002958832.1:n.3821T>G
XR_002958834.1:n.4045T>G
XR_002958835.1:n.3928T>G
XR_002958836.1:n.4611T>G
XR_002958837.1:n.4418T>G
XR_244571.4:n.3938T>G
XR_430568.4:n.4272T>G
NM_001146706.2:c.3480T>G	NP_001140178.1:p.Ser1160=
NM_004653.5:c.3651T>G MANE Select	NP_004644.2:p.Ser1217=
NM_001146705.2:c.3744T>G	NP_001140177.1:p.Ser1248=