Canonical Allele Identifier: CA9150063
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs552708461
ExAC: 19:8008472 A / G
gnomAD v2: 19-8008472-A-G
gnomAD v3: 19-7943587-A-G
gnomAD v4: 19-7943587-A-G
MyVariant Identifiers: chr19:g.8008472A>G (hg19) chr19:g.7943587A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943587A>G , CM000681.2:g.7943587A>G GRCh38
NC_000019.9:g.8008472A>G , CM000681.1:g.8008472A>G GRCh37
NC_000019.8:g.7914472A>G NCBI36
NG_051180.1:g.5237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.45+20T>C MANE Select ENSP00000270538.2:n.45+20T>C
ENST00000270538.7:c.45+20T>C ENSP00000270538.2:n.45+20T>C
ENST00000595831.5:c.29+20T>C
ENST00000595876.5:c.45+20T>C ENSP00000471596.1:n.45+20T>C
ENST00000597926.1:c.45+20T>C ENSP00000469389.1:n.45+20T>C
ENST00000600000.1:n.60+20T>C
ENST00000600748.5:n.30+20T>C
NM_006351.3:c.45+20T>C NP_006342.2:n.45+20T>C
NM_006351.4:c.45+20T>C MANE Select NP_006342.2:n.45+20T>C
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