Canonical Allele Identifier: CA322681
Gene: TIMM44 HGNC NCBI

Linked Data

ClinVar Variation Id: 215249
ClinVar RCV Id: RCV000198179
dbSNP Id: rs147925283
ExAC: 19:7998852 C / T
gnomAD v2: 19-7998852-C-T
gnomAD v3: 19-7933967-C-T
gnomAD v4: 19-7933967-C-T
MyVariant Identifiers: chr19:g.7998852C>T (hg19) chr19:g.7933967C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933967C>T , CM000681.2:g.7933967C>T GRCh38
NC_000019.9:g.7998852C>T , CM000681.1:g.7998852C>T GRCh37
NC_000019.8:g.7904852C>T NCBI36
NG_051180.1:g.14857G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270538.8:c.580G>A MANE Select ENSP00000270538.2:p.Val194Ile
ENST00000270538.7:c.580G>A ENSP00000270538.2:p.Val194Ile
ENST00000595831.5:c.567G>A
ENST00000595876.5:c.*268G>A ENSP00000471596.1:n.*268G>A
ENST00000597926.1:c.484G>A ENSP00000469389.1:p.Val162Ile
ENST00000600748.5:n.565G>A
NM_006351.3:c.580G>A NP_006342.2:p.Val194Ile
NM_006351.4:c.580G>A MANE Select NP_006342.2:p.Val194Ile
Search 100 bp 5'
Search 100 bp 3'