Canonical Allele Identifier: CA631340607
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs1368357942
gnomAD v2: 19-8008400-C-T
gnomAD v3: 19-7943515-C-T
gnomAD v4: 19-7943515-C-T
MyVariant Identifiers: chr19:g.8008400C>T (hg19) chr19:g.7943515C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943515C>T , CM000681.2:g.7943515C>T GRCh38
NC_000019.9:g.8008400C>T , CM000681.1:g.8008400C>T GRCh37
NC_000019.8:g.7914400C>T NCBI36
NG_051180.1:g.5309G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.45+92G>A MANE Select ENSP00000270538.2:n.45+92G>A
ENST00000270538.7:c.45+92G>A ENSP00000270538.2:n.45+92G>A
ENST00000595831.5:c.29+92G>A
ENST00000595876.5:c.45+92G>A ENSP00000471596.1:n.45+92G>A
ENST00000597926.1:c.45+92G>A ENSP00000469389.1:n.45+92G>A
ENST00000600000.1:n.60+92G>A
ENST00000600748.5:n.30+92G>A
NM_006351.3:c.45+92G>A NP_006342.2:n.45+92G>A
NM_006351.4:c.45+92G>A MANE Select NP_006342.2:n.45+92G>A
Search 100 bp 5'
Search 100 bp 3'