Canonical Allele Identifier: CA414843483
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707536G>A , CM000686.2:g.19707536G>A GRCh38
NC_000024.9:g.21869422G>A , CM000686.1:g.21869422G>A GRCh37
NC_000024.8:g.20328810G>A NCBI36
NG_032920.1:g.42404C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3610C>T MANE Select ENSP00000322408.4:p.Pro1204Ser
ENST00000317961.8:c.3610C>T ENSP00000322408.4:p.Pro1204Ser
ENST00000382806.6:c.3439C>T ENSP00000372256.2:p.Pro1147Ser
ENST00000415360.1:c.526C>T ENSP00000389433.1:p.Pro176Ser
ENST00000440077.5:c.3487C>T ENSP00000398543.1:p.Pro1163Ser
ENST00000469599.6:n.2208C>T
ENST00000492117.1:n.3502C>T
ENST00000541639.5:c.3703C>T ENSP00000444293.1:p.Pro1235Ser
NM_001146705.1:c.3703C>T NP_001140177.1:p.Pro1235Ser
NM_001146706.1:c.3439C>T NP_001140178.1:p.Pro1147Ser
NM_004653.4:c.3610C>T NP_004644.2:p.Pro1204Ser
XM_005262560.1:c.3475C>T XP_005262617.1:p.Pro1159Ser
XM_005262561.1:c.3379C>T XP_005262618.1:p.Pro1127Ser
XM_011531468.1:c.3532C>T XP_011529770.1:p.Pro1178Ser
XR_244571.2:n.3898C>T
XR_430568.2:n.4232C>T
XM_005262560.3:c.3475C>T XP_005262617.1:p.Pro1159Ser
XM_005262561.3:c.3379C>T XP_005262618.1:p.Pro1127Ser
XM_011531468.3:c.3532C>T XP_011529770.1:p.Pro1178Ser
XM_024452495.1:c.1600C>T XP_024308263.1:p.Pro534Ser
XM_024452496.1:c.1366C>T XP_024308264.1:p.Pro456Ser
XR_001756009.2:n.4348C>T
XR_001756010.2:n.4348C>T
XR_001756011.2:n.4213C>T
XR_001756012.2:n.4361C>T
XR_001756013.2:n.3679C>T
XR_002958832.1:n.3780C>T
XR_002958834.1:n.4004C>T
XR_002958835.1:n.3887C>T
XR_002958836.1:n.4570C>T
XR_002958837.1:n.4377C>T
XR_244571.4:n.3897C>T
XR_430568.4:n.4231C>T
NM_001146706.2:c.3439C>T NP_001140178.1:p.Pro1147Ser
NM_004653.5:c.3610C>T MANE Select NP_004644.2:p.Pro1204Ser
NM_001146705.2:c.3703C>T NP_001140177.1:p.Pro1235Ser