Canonical Allele Identifier: CA520516602
Gene: KDM5D HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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