Canonical Allele Identifier: CA505415610
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7933977-A-G
MyVariant Identifiers: chr19:g.7998862A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933977A>G , CM000681.2:g.7933977A>G GRCh38
NC_000019.9:g.7998862A>G , CM000681.1:g.7998862A>G GRCh37
NC_000019.8:g.7904862A>G NCBI36
NG_051180.1:g.14847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.570T>C MANE Select ENSP00000270538.2:p.Ile190=
ENST00000270538.7:c.570T>C ENSP00000270538.2:p.Ile190=
ENST00000595831.5:c.557T>C
ENST00000595876.5:c.*258T>C ENSP00000471596.1:n.*258T>C
ENST00000597926.1:c.474T>C ENSP00000469389.1:p.Ile158=
ENST00000600748.5:n.555T>C
NM_006351.3:c.570T>C NP_006342.2:p.Ile190=
NM_006351.4:c.570T>C MANE Select NP_006342.2:p.Ile190=
Search 100 bp 5'
Search 100 bp 3'