Canonical Allele Identifier: CA505415593
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs1326628216
gnomAD v2: 19-7998847-C-G
gnomAD v3: 19-7933962-C-G
gnomAD v4: 19-7933962-C-G
MyVariant Identifiers: chr19:g.7998847C>G (hg19) chr19:g.7933962C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933962C>G , CM000681.2:g.7933962C>G GRCh38
NC_000019.9:g.7998847C>G , CM000681.1:g.7998847C>G GRCh37
NC_000019.8:g.7904847C>G NCBI36
NG_051180.1:g.14862G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.585G>C MANE Select ENSP00000270538.2:p.Leu195=
ENST00000270538.7:c.585G>C ENSP00000270538.2:p.Leu195=
ENST00000595831.5:c.572G>C
ENST00000595876.5:c.*273G>C ENSP00000471596.1:n.*273G>C
ENST00000597926.1:c.489G>C ENSP00000469389.1:p.Leu163=
ENST00000600748.5:n.570G>C
NM_006351.3:c.585G>C NP_006342.2:p.Leu195=
NM_006351.4:c.585G>C MANE Select NP_006342.2:p.Leu195=
Search 100 bp 5'
Search 100 bp 3'