Canonical Allele Identifier: CA2588035146
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7934058-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934058G>T , CM000681.2:g.7934058G>T GRCh38
NC_000019.9:g.7998943G>T , CM000681.1:g.7998943G>T GRCh37
NC_000019.8:g.7904943G>T NCBI36
NG_051180.1:g.14766C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.543+31C>A MANE Select ENSP00000270538.2:n.543+31C>A
ENST00000270538.7:c.543+31C>A ENSP00000270538.2:n.543+31C>A
ENST00000595831.5:c.530+31C>A
ENST00000595876.5:c.*231+31C>A ENSP00000471596.1:n.*231+31C>A
ENST00000597926.1:c.447+31C>A ENSP00000469389.1:n.447+31C>A
ENST00000600748.5:n.528+31C>A
NM_006351.3:c.543+31C>A NP_006342.2:n.543+31C>A
NM_006351.4:c.543+31C>A MANE Select NP_006342.2:n.543+31C>A
Search 100 bp 5'
Search 100 bp 3'