Canonical Allele Identifier: CA2694293947
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs2147418688
gnomAD v4: X-101348986-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348986A>G , CM000685.2:g.101348986A>G GRCh38
NC_000023.10:g.100603974A>G , CM000685.1:g.100603974A>G GRCh37
NC_000023.9:g.100490630A>G NCBI36
NG_009616.1:g.42239T>C , LRG_128:g.42239T>C
NG_011734.1:g.4984T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-322T>C ENSP00000361993.3:n.-322T>C
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