Canonical Allele Identifier: CA2321174010
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs1984365988

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943496A>G , CM000681.2:g.7943496A>G GRCh38
NC_000019.9:g.8008381A>G , CM000681.1:g.8008381A>G GRCh37
NC_000019.8:g.7914381A>G NCBI36
NG_051180.1:g.5328T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.45+111T>C MANE Select ENSP00000270538.2:n.45+111T>C
ENST00000270538.7:c.45+111T>C ENSP00000270538.2:n.45+111T>C
ENST00000595831.5:c.29+111T>C
ENST00000595876.5:c.45+111T>C ENSP00000471596.1:n.45+111T>C
ENST00000597926.1:c.45+111T>C ENSP00000469389.1:n.45+111T>C
ENST00000600000.1:n.60+111T>C
ENST00000600748.5:n.30+111T>C
NM_006351.3:c.45+111T>C NP_006342.2:n.45+111T>C
NM_006351.4:c.45+111T>C MANE Select NP_006342.2:n.45+111T>C