Canonical Allele Identifier: CA2588036462
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7943556-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943556A>C , CM000681.2:g.7943556A>C GRCh38
NC_000019.9:g.8008441A>C , CM000681.1:g.8008441A>C GRCh37
NC_000019.8:g.7914441A>C NCBI36
NG_051180.1:g.5268T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.45+51T>G MANE Select ENSP00000270538.2:n.45+51T>G
ENST00000270538.7:c.45+51T>G ENSP00000270538.2:n.45+51T>G
ENST00000595831.5:c.29+51T>G
ENST00000595876.5:c.45+51T>G ENSP00000471596.1:n.45+51T>G
ENST00000597926.1:c.45+51T>G ENSP00000469389.1:n.45+51T>G
ENST00000600000.1:n.60+51T>G
ENST00000600748.5:n.30+51T>G
NM_006351.3:c.45+51T>G NP_006342.2:n.45+51T>G
NM_006351.4:c.45+51T>G MANE Select NP_006342.2:n.45+51T>G
Search 100 bp 5'
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