Canonical Allele Identifier: CA520516457
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869335G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707449G>A , CM000686.2:g.19707449G>A GRCh38
NC_000024.9:g.21869335G>A , CM000686.1:g.21869335G>A GRCh37
NC_000024.8:g.20328723G>A NCBI36
NG_032920.1:g.42491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3697C>T MANE Select ENSP00000322408.4:p.Leu1233=
ENST00000317961.8:c.3697C>T ENSP00000322408.4:p.Leu1233=
ENST00000382806.6:c.3526C>T ENSP00000372256.2:p.Leu1176=
ENST00000415360.1:c.613C>T ENSP00000389433.1:p.Leu205=
ENST00000440077.5:c.3574C>T ENSP00000398543.1:p.Leu1192=
ENST00000469599.6:n.2295C>T
ENST00000492117.1:n.3589C>T
ENST00000541639.5:c.3790C>T ENSP00000444293.1:p.Leu1264=
NM_001146705.1:c.3790C>T NP_001140177.1:p.Leu1264=
NM_001146706.1:c.3526C>T NP_001140178.1:p.Leu1176=
NM_004653.4:c.3697C>T NP_004644.2:p.Leu1233=
XM_005262560.1:c.3562C>T XP_005262617.1:p.Leu1188=
XM_005262561.1:c.3466C>T XP_005262618.1:p.Leu1156=
XM_011531468.1:c.3619C>T XP_011529770.1:p.Leu1207=
XR_244571.2:n.3985C>T
XR_430568.2:n.4319C>T
XM_005262560.3:c.3562C>T XP_005262617.1:p.Leu1188=
XM_005262561.3:c.3466C>T XP_005262618.1:p.Leu1156=
XM_011531468.3:c.3619C>T XP_011529770.1:p.Leu1207=
XM_024452495.1:c.1687C>T XP_024308263.1:p.Leu563=
XM_024452496.1:c.1453C>T XP_024308264.1:p.Leu485=
XR_001756009.2:n.4435C>T
XR_001756010.2:n.4435C>T
XR_001756011.2:n.4300C>T
XR_001756012.2:n.4448C>T
XR_001756013.2:n.3766C>T
XR_002958832.1:n.3867C>T
XR_002958834.1:n.4091C>T
XR_002958835.1:n.3974C>T
XR_002958836.1:n.4657C>T
XR_002958837.1:n.4464C>T
XR_244571.4:n.3984C>T
XR_430568.4:n.4318C>T
NM_001146706.2:c.3526C>T NP_001140178.1:p.Leu1176=
NM_004653.5:c.3697C>T MANE Select NP_004644.2:p.Leu1233=
NM_001146705.2:c.3790C>T NP_001140177.1:p.Leu1264=