Canonical Allele Identifier: CA2321174119
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs1984368483
gnomAD v4: 19-7943574-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943574A>G , CM000681.2:g.7943574A>G GRCh38
NC_000019.9:g.8008459A>G , CM000681.1:g.8008459A>G GRCh37
NC_000019.8:g.7914459A>G NCBI36
NG_051180.1:g.5250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.45+33T>C MANE Select ENSP00000270538.2:n.45+33T>C
ENST00000270538.7:c.45+33T>C ENSP00000270538.2:n.45+33T>C
ENST00000595831.5:c.29+33T>C
ENST00000595876.5:c.45+33T>C ENSP00000471596.1:n.45+33T>C
ENST00000597926.1:c.45+33T>C ENSP00000469389.1:n.45+33T>C
ENST00000600000.1:n.60+33T>C
ENST00000600748.5:n.30+33T>C
NM_006351.3:c.45+33T>C NP_006342.2:n.45+33T>C
NM_006351.4:c.45+33T>C MANE Select NP_006342.2:n.45+33T>C
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