Canonical Allele Identifier: CA520516601
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869414G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707528G>A , CM000686.2:g.19707528G>A GRCh38
NC_000024.9:g.21869414G>A , CM000686.1:g.21869414G>A GRCh37
NC_000024.8:g.20328802G>A NCBI36
NG_032920.1:g.42412C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3618C>T MANE Select ENSP00000322408.4:p.Leu1206=
ENST00000317961.8:c.3618C>T ENSP00000322408.4:p.Leu1206=
ENST00000382806.6:c.3447C>T ENSP00000372256.2:p.Leu1149=
ENST00000415360.1:c.534C>T ENSP00000389433.1:p.Leu178=
ENST00000440077.5:c.3495C>T ENSP00000398543.1:p.Leu1165=
ENST00000469599.6:n.2216C>T
ENST00000492117.1:n.3510C>T
ENST00000541639.5:c.3711C>T ENSP00000444293.1:p.Leu1237=
NM_001146705.1:c.3711C>T NP_001140177.1:p.Leu1237=
NM_001146706.1:c.3447C>T NP_001140178.1:p.Leu1149=
NM_004653.4:c.3618C>T NP_004644.2:p.Leu1206=
XM_005262560.1:c.3483C>T XP_005262617.1:p.Leu1161=
XM_005262561.1:c.3387C>T XP_005262618.1:p.Leu1129=
XM_011531468.1:c.3540C>T XP_011529770.1:p.Leu1180=
XR_244571.2:n.3906C>T
XR_430568.2:n.4240C>T
XM_005262560.3:c.3483C>T XP_005262617.1:p.Leu1161=
XM_005262561.3:c.3387C>T XP_005262618.1:p.Leu1129=
XM_011531468.3:c.3540C>T XP_011529770.1:p.Leu1180=
XM_024452495.1:c.1608C>T XP_024308263.1:p.Leu536=
XM_024452496.1:c.1374C>T XP_024308264.1:p.Leu458=
XR_001756009.2:n.4356C>T
XR_001756010.2:n.4356C>T
XR_001756011.2:n.4221C>T
XR_001756012.2:n.4369C>T
XR_001756013.2:n.3687C>T
XR_002958832.1:n.3788C>T
XR_002958834.1:n.4012C>T
XR_002958835.1:n.3895C>T
XR_002958836.1:n.4578C>T
XR_002958837.1:n.4385C>T
XR_244571.4:n.3905C>T
XR_430568.4:n.4239C>T
NM_001146706.2:c.3447C>T NP_001140178.1:p.Leu1149=
NM_004653.5:c.3618C>T MANE Select NP_004644.2:p.Leu1206=
NM_001146705.2:c.3711C>T NP_001140177.1:p.Leu1237=