Canonical Allele Identifier: CA304925678
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs749223297
gnomAD v2: 19-7998925-T-C
gnomAD v4: 19-7934040-T-C
MyVariant Identifiers: chr19:g.7998925T>C (hg19) chr19:g.7934040T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934040T>C , CM000681.2:g.7934040T>C GRCh38
NC_000019.9:g.7998925T>C , CM000681.1:g.7998925T>C GRCh37
NC_000019.8:g.7904925T>C NCBI36
NG_051180.1:g.14784A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.544-37A>G MANE Select ENSP00000270538.2:n.544-37A>G
ENST00000270538.7:c.544-37A>G ENSP00000270538.2:n.544-37A>G
ENST00000595831.5:c.531-37A>G
ENST00000595876.5:c.*232-37A>G ENSP00000471596.1:n.*232-37A>G
ENST00000597926.1:c.448-37A>G ENSP00000469389.1:n.448-37A>G
ENST00000600748.5:n.529-37A>G
NM_006351.3:c.544-37A>G NP_006342.2:n.544-37A>G
NM_006351.4:c.544-37A>G MANE Select NP_006342.2:n.544-37A>G
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