Canonical Allele Identifier: CA325347
Gene: TIMM44 HGNC NCBI

Linked Data

ClinVar Variation Id: 215250
ClinVar RCV Id: RCV000200763
dbSNP Id: rs138385134
ExAC: 19:7992159 C / T
gnomAD v2: 19-7992159-C-T
gnomAD v3: 19-7927274-C-T
gnomAD v4: 19-7927274-C-T
MyVariant Identifiers: chr19:g.7992159C>T (hg19) chr19:g.7927274C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7927274C>T , CM000681.2:g.7927274C>T GRCh38
NC_000019.9:g.7992159C>T , CM000681.1:g.7992159C>T GRCh37
NC_000019.8:g.7898159C>T NCBI36
NG_051180.1:g.21550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.1272G>A MANE Select ENSP00000270538.2:p.Ala424=
ENST00000270538.7:c.1272G>A ENSP00000270538.2:p.Ala424=
ENST00000595565.5:c.315G>A ENSP00000469273.1:p.Ala105=
ENST00000595831.5:c.1259G>A
ENST00000598968.5:n.437G>A
ENST00000599650.1:n.696G>A
ENST00000599939.1:n.1671G>A
NM_006351.3:c.1272G>A NP_006342.2:p.Ala424=
NM_006351.4:c.1272G>A MANE Select NP_006342.2:p.Ala424=
Search 100 bp 5'
Search 100 bp 3'