Canonical Allele Identifier: CA15672305
Gene: TIMM23 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.46002468C>T
GRCh37 chr10:g.51593354G>A
gnomAD v2:
10:51593354 G / A
gnomAD v3:
10:46002468 C / T
gnomAD v4:
chr10-46002468-C-T
Joint Max Group AF 0.108398 (NFE)
Genomes Max Group AF 0.10935478 (NFE)
Exomes Max Group AF 0.1081514 (NFE)
dbSNP:
7085433
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.46002468C>T , CM000672.2:g.46002468C>T GRCh38
NC_000010.10:g.51593354G>A , CM000672.1:g.51593354G>A GRCh37
NC_000010.9:g.51263360G>A NCBI36
NG_032850.1:g.35033C>T
NG_032850.2:g.35016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000580018.4:c.515-735C>T MANE Select ENSP00000464522.3:n.515-735C>T
ENST00000580018.3:c.515-735C>T ENSP00000464522.3:n.515-735C>T
NM_006327.3:c.515-735C>T NP_006318.1:n.515-735C>T
NR_073029.1:n.794C>T
NR_073030.1:n.628-735C>T
NM_006327.4:c.515-735C>T MANE Select NP_006318.1:n.515-735C>T
NR_073029.2:n.758C>T
NR_073030.2:n.592-735C>T
Search 100 bp 5'
Search 100 bp 3'