Canonical Allele Identifier: CA403699480
Gene: TIMM44 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7998795A>C (hg19) chr19:g.7933910A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933910A>C , CM000681.2:g.7933910A>C GRCh38
NC_000019.9:g.7998795A>C , CM000681.1:g.7998795A>C GRCh37
NC_000019.8:g.7904795A>C NCBI36
NG_051180.1:g.14914T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.637T>G MANE Select ENSP00000270538.2:p.Phe213Val
ENST00000270538.7:c.637T>G ENSP00000270538.2:p.Phe213Val
ENST00000595831.5:c.624T>G
ENST00000595876.5:c.*325T>G ENSP00000471596.1:n.*325T>G
ENST00000597926.1:c.541T>G ENSP00000469389.1:p.Phe181Val
ENST00000598675.1:n.43T>G
ENST00000600748.5:n.622T>G
NM_006351.3:c.637T>G NP_006342.2:p.Phe213Val
NM_006351.4:c.637T>G MANE Select NP_006342.2:p.Phe213Val
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Search 100 bp 3'