Canonical Allele Identifier: CA520159983
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21868708A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706822A>C , CM000686.2:g.19706822A>C GRCh38
NC_000024.9:g.21868708A>C , CM000686.1:g.21868708A>C GRCh37
NC_000024.8:g.20328096A>C NCBI36
NG_032920.1:g.43118T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4041T>G MANE Select ENSP00000322408.4:p.Pro1347=
ENST00000317961.8:c.4041T>G ENSP00000322408.4:p.Pro1347=
ENST00000382806.6:c.3870T>G ENSP00000372256.2:p.Pro1290=
ENST00000440077.5:c.3918T>G ENSP00000398543.1:p.Pro1306=
ENST00000469599.6:n.2639T>G
ENST00000492117.1:n.3933T>G
ENST00000541639.5:c.4134T>G ENSP00000444293.1:p.Pro1378=
NM_001146705.1:c.4134T>G NP_001140177.1:p.Pro1378=
NM_001146706.1:c.3870T>G NP_001140178.1:p.Pro1290=
NM_004653.4:c.4041T>G NP_004644.2:p.Pro1347=
XM_005262560.1:c.3906T>G XP_005262617.1:p.Pro1302=
XM_005262561.1:c.3810T>G XP_005262618.1:p.Pro1270=
XM_011531468.1:c.3963T>G XP_011529770.1:p.Pro1321=
XR_244571.2:n.4329T>G
XR_430568.2:n.4663T>G
XM_005262560.3:c.3906T>G XP_005262617.1:p.Pro1302=
XM_005262561.3:c.3810T>G XP_005262618.1:p.Pro1270=
XM_011531468.3:c.3963T>G XP_011529770.1:p.Pro1321=
XM_024452495.1:c.2031T>G XP_024308263.1:p.Pro677=
XM_024452496.1:c.1797T>G XP_024308264.1:p.Pro599=
XR_001756009.2:n.4779T>G
XR_001756010.2:n.4779T>G
XR_001756011.2:n.4644T>G
XR_001756012.2:n.4792T>G
XR_001756013.2:n.4110T>G
XR_002958832.1:n.4211T>G
XR_002958834.1:n.4435T>G
XR_002958835.1:n.4318T>G
XR_002958836.1:n.5001T>G
XR_002958837.1:n.4808T>G
XR_244571.4:n.4328T>G
XR_430568.4:n.4662T>G
NM_001146706.2:c.3870T>G NP_001140178.1:p.Pro1290=
NM_004653.5:c.4041T>G MANE Select NP_004644.2:p.Pro1347=
NM_001146705.2:c.4134T>G NP_001140177.1:p.Pro1378=