Canonical Allele Identifier: CA291294
Gene: TIMM44 HGNC NCBI

Linked Data

ClinVar Variation Id: 137647
ClinVar RCV Id: RCV000125503 RCV000676254
dbSNP Id: rs11542187
ExAC: 19:7992976 T / C
gnomAD v2: 19-7992976-T-C
gnomAD v3: 19-7928091-T-C
gnomAD v4: 19-7928091-T-C
MyVariant Identifiers: chr19:g.7992976T>C (hg19) chr19:g.7928091T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7928091T>C , CM000681.2:g.7928091T>C GRCh38
NC_000019.9:g.7992976T>C , CM000681.1:g.7992976T>C GRCh37
NC_000019.8:g.7898976T>C NCBI36
NG_051180.1:g.20733A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.1114A>G MANE Select ENSP00000270538.2:p.Ile372Val
ENST00000270538.7:c.1114A>G ENSP00000270538.2:p.Ile372Val
ENST00000595565.5:c.172-324A>G ENSP00000469273.1:n.172-324A>G
ENST00000595831.5:c.1101A>G
ENST00000598481.1:n.320A>G
ENST00000598968.5:n.279A>G
ENST00000599650.1:n.538A>G
ENST00000599939.1:n.854A>G
NM_006351.3:c.1114A>G NP_006342.2:p.Ile372Val
NM_006351.4:c.1114A>G MANE Select NP_006342.2:p.Ile372Val
Search 100 bp 5'
Search 100 bp 3'