Canonical Allele Identifier: CA291311
Gene: TIMM44 HGNC NCBI

Linked Data

ClinVar Variation Id: 137658
ClinVar RCV Id: RCV000125514 RCV000676260
dbSNP Id: rs11542189
ExAC: 19:8000001 C / T
gnomAD v2: 19-8000001-C-T
gnomAD v3: 19-7935116-C-T
gnomAD v4: 19-7935116-C-T
MyVariant Identifiers: chr19:g.8000001C>T (hg19) chr19:g.7935116C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7935116C>T , CM000681.2:g.7935116C>T GRCh38
NC_000019.9:g.8000001C>T , CM000681.1:g.8000001C>T GRCh37
NC_000019.8:g.7906001C>T NCBI36
NG_051180.1:g.13708G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270538.8:c.342G>A MANE Select ENSP00000270538.2:p.Thr114=
ENST00000270538.7:c.342G>A ENSP00000270538.2:p.Thr114=
ENST00000595831.5:c.326G>A
ENST00000595876.5:c.*30G>A ENSP00000471596.1:n.*30G>A
ENST00000597926.1:c.246G>A ENSP00000469389.1:p.Thr82=
ENST00000600748.5:n.327G>A
NM_006351.3:c.342G>A NP_006342.2:p.Thr114=
NM_006351.4:c.342G>A MANE Select NP_006342.2:p.Thr114=
Search 100 bp 5'
Search 100 bp 3'