Canonical Allele Identifier: CA520516957
Gene: KDM5D HGNC NCBI

Linked Data

COSMIC: COSM182704
MyVariant Identifiers: chrY:g.21869540T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707654T>C , CM000686.2:g.19707654T>C GRCh38
NC_000024.9:g.21869540T>C , CM000686.1:g.21869540T>C GRCh37
NC_000024.8:g.20328928T>C NCBI36
NG_032920.1:g.42286A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3492A>G MANE Select ENSP00000322408.4:p.Pro1164=
ENST00000317961.8:c.3492A>G ENSP00000322408.4:p.Pro1164=
ENST00000382806.6:c.3321A>G ENSP00000372256.2:p.Pro1107=
ENST00000415360.1:c.408A>G ENSP00000389433.1:p.Pro136=
ENST00000440077.5:c.3369A>G ENSP00000398543.1:p.Pro1123=
ENST00000469599.6:n.2090A>G
ENST00000492117.1:n.3384A>G
ENST00000541639.5:c.3585A>G ENSP00000444293.1:p.Pro1195=
NM_001146705.1:c.3585A>G NP_001140177.1:p.Pro1195=
NM_001146706.1:c.3321A>G NP_001140178.1:p.Pro1107=
NM_004653.4:c.3492A>G NP_004644.2:p.Pro1164=
XM_005262560.1:c.3357A>G XP_005262617.1:p.Pro1119=
XM_005262561.1:c.3261A>G XP_005262618.1:p.Pro1087=
XM_011531468.1:c.3414A>G XP_011529770.1:p.Pro1138=
XR_244571.2:n.3780A>G
XR_430568.2:n.4114A>G
XM_005262560.3:c.3357A>G XP_005262617.1:p.Pro1119=
XM_005262561.3:c.3261A>G XP_005262618.1:p.Pro1087=
XM_011531468.3:c.3414A>G XP_011529770.1:p.Pro1138=
XM_024452495.1:c.1482A>G XP_024308263.1:p.Pro494=
XM_024452496.1:c.1248A>G XP_024308264.1:p.Pro416=
XR_001756009.2:n.4230A>G
XR_001756010.2:n.4230A>G
XR_001756011.2:n.4095A>G
XR_001756012.2:n.4243A>G
XR_001756013.2:n.3561A>G
XR_002958832.1:n.3662A>G
XR_002958834.1:n.3886A>G
XR_002958835.1:n.3769A>G
XR_002958836.1:n.4452A>G
XR_002958837.1:n.4259A>G
XR_244571.4:n.3779A>G
XR_430568.4:n.4113A>G
NM_001146706.2:c.3321A>G NP_001140178.1:p.Pro1107=
NM_004653.5:c.3492A>G MANE Select NP_004644.2:p.Pro1164=
NM_001146705.2:c.3585A>G NP_001140177.1:p.Pro1195=