Canonical Allele Identifier: CA9149814
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs767312746
ExAC: 19:7998913 G / T
gnomAD v2: 19-7998913-G-T
gnomAD v3: 19-7934028-G-T
gnomAD v4: 19-7934028-G-T
MyVariant Identifiers: chr19:g.7998913G>T (hg19) chr19:g.7934028G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934028G>T , CM000681.2:g.7934028G>T GRCh38
NC_000019.9:g.7998913G>T , CM000681.1:g.7998913G>T GRCh37
NC_000019.8:g.7904913G>T NCBI36
NG_051180.1:g.14796C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.544-25C>A MANE Select ENSP00000270538.2:n.544-25C>A
ENST00000270538.7:c.544-25C>A ENSP00000270538.2:n.544-25C>A
ENST00000595831.5:c.531-25C>A
ENST00000595876.5:c.*232-25C>A ENSP00000471596.1:n.*232-25C>A
ENST00000597926.1:c.448-25C>A ENSP00000469389.1:n.448-25C>A
ENST00000600748.5:n.529-25C>A
NM_006351.3:c.544-25C>A NP_006342.2:n.544-25C>A
NM_006351.4:c.544-25C>A MANE Select NP_006342.2:n.544-25C>A
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