Canonical Allele Identifier: CA405787085
Gene: TIMM50 HGNC NCBI

Linked Data

ClinVar Variation Id: 440793
dbSNP Id: rs1300848445

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39485570C>T , CM000681.2:g.39485570C>T GRCh38
NC_000019.9:g.39976210C>T , CM000681.1:g.39976210C>T GRCh37
NC_000019.8:g.44668050C>T NCBI36
NG_051245.1:g.10159C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000607714.6:c.340C>T MANE Select ENSP00000475531.1:p.Arg114Trp
ENST00000314349.8:c.649C>T ENSP00000318115.3:p.Arg217Trp
ENST00000544017.5:c.649C>T ENSP00000445806.2:p.Arg217Trp
ENST00000594583.2:c.324C>T
ENST00000596239.1:n.532C>T
ENST00000597666.5:c.163-118C>T ENSP00000472723.2:n.163-118C>T
ENST00000597782.5:c.424C>T
ENST00000599733.5:c.313C>T
ENST00000599794.5:c.109-2491C>T ENSP00000472524.2:n.109-2491C>T
ENST00000601358.5:c.314-118C>T ENSP00000472476.2:n.314-118C>T
ENST00000601403.5:c.286C>T ENSP00000472184.2:p.Arg96Trp
ENST00000602028.5:c.290-118C>T
ENST00000602265.5:c.240-118C>T
ENST00000607714.5:c.340C>T ENSP00000475531.1:p.Arg114Trp
NM_001001563.1:c.649C>T NP_001001563.1:p.Arg217Trp
XM_011527491.1:c.304C>T XP_011525793.1:p.Arg102Trp
NM_001001563.4:c.340C>T NP_001001563.2:p.Arg114Trp
NM_001329559.1:c.34-118C>T NP_001316488.1:n.34-118C>T
XM_011527491.3:c.304C>T XP_011525793.1:p.Arg102Trp
NM_001001563.5:c.340C>T MANE Select NP_001001563.2:p.Arg114Trp
NM_001329559.2:c.34-118C>T NP_001316488.1:n.34-118C>T