Canonical Allele Identifier: CA403699638
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs1162523536
gnomAD v2: 19-7998813-G-A
gnomAD v3: 19-7933928-G-A
gnomAD v4: 19-7933928-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933928G>A , CM000681.2:g.7933928G>A GRCh38
NC_000019.9:g.7998813G>A , CM000681.1:g.7998813G>A GRCh37
NC_000019.8:g.7904813G>A NCBI36
NG_051180.1:g.14896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.619C>T MANE Select ENSP00000270538.2:p.Leu207Phe
ENST00000270538.7:c.619C>T ENSP00000270538.2:p.Leu207Phe
ENST00000595831.5:c.606C>T
ENST00000595876.5:c.*307C>T ENSP00000471596.1:n.*307C>T
ENST00000597926.1:c.523C>T ENSP00000469389.1:p.Leu175Phe
ENST00000598675.1:n.25C>T
ENST00000600748.5:n.604C>T
NM_006351.3:c.619C>T NP_006342.2:p.Leu207Phe
NM_006351.4:c.619C>T MANE Select NP_006342.2:p.Leu207Phe