Canonical Allele Identifier: CA403699996
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs2145176241

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933976C>G , CM000681.2:g.7933976C>G GRCh38
NC_000019.9:g.7998861C>G , CM000681.1:g.7998861C>G GRCh37
NC_000019.8:g.7904861C>G NCBI36
NG_051180.1:g.14848G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.571G>C MANE Select ENSP00000270538.2:p.Asp191His
ENST00000270538.7:c.571G>C ENSP00000270538.2:p.Asp191His
ENST00000595831.5:c.558G>C
ENST00000595876.5:c.*259G>C ENSP00000471596.1:n.*259G>C
ENST00000597926.1:c.475G>C ENSP00000469389.1:p.Asp159His
ENST00000600748.5:n.556G>C
NM_006351.3:c.571G>C NP_006342.2:p.Asp191His
NM_006351.4:c.571G>C MANE Select NP_006342.2:p.Asp191His