Canonical Allele Identifier: CA520160746
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869555G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707669G>C , CM000686.2:g.19707669G>C GRCh38
NC_000024.9:g.21869555G>C , CM000686.1:g.21869555G>C GRCh37
NC_000024.8:g.20328943G>C NCBI36
NG_032920.1:g.42271C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3477C>G MANE Select ENSP00000322408.4:p.Pro1159=
ENST00000317961.8:c.3477C>G ENSP00000322408.4:p.Pro1159=
ENST00000382806.6:c.3306C>G ENSP00000372256.2:p.Pro1102=
ENST00000415360.1:c.393C>G ENSP00000389433.1:p.Pro131=
ENST00000440077.5:c.3354C>G ENSP00000398543.1:p.Pro1118=
ENST00000469599.6:n.2075C>G
ENST00000492117.1:n.3369C>G
ENST00000541639.5:c.3570C>G ENSP00000444293.1:p.Pro1190=
NM_001146705.1:c.3570C>G NP_001140177.1:p.Pro1190=
NM_001146706.1:c.3306C>G NP_001140178.1:p.Pro1102=
NM_004653.4:c.3477C>G NP_004644.2:p.Pro1159=
XM_005262560.1:c.3342C>G XP_005262617.1:p.Pro1114=
XM_005262561.1:c.3246C>G XP_005262618.1:p.Pro1082=
XM_011531468.1:c.3399C>G XP_011529770.1:p.Pro1133=
XR_244571.2:n.3765C>G
XR_430568.2:n.4099C>G
XM_005262560.3:c.3342C>G XP_005262617.1:p.Pro1114=
XM_005262561.3:c.3246C>G XP_005262618.1:p.Pro1082=
XM_011531468.3:c.3399C>G XP_011529770.1:p.Pro1133=
XM_024452495.1:c.1467C>G XP_024308263.1:p.Pro489=
XM_024452496.1:c.1233C>G XP_024308264.1:p.Pro411=
XR_001756009.2:n.4215C>G
XR_001756010.2:n.4215C>G
XR_001756011.2:n.4080C>G
XR_001756012.2:n.4228C>G
XR_001756013.2:n.3546C>G
XR_002958832.1:n.3647C>G
XR_002958834.1:n.3871C>G
XR_002958835.1:n.3754C>G
XR_002958836.1:n.4437C>G
XR_002958837.1:n.4244C>G
XR_244571.4:n.3764C>G
XR_430568.4:n.4098C>G
NM_001146706.2:c.3306C>G NP_001140178.1:p.Pro1102=
NM_004653.5:c.3477C>G MANE Select NP_004644.2:p.Pro1159=
NM_001146705.2:c.3570C>G NP_001140177.1:p.Pro1190=