Canonical Allele Identifier: CA382616520
Gene: TIMM8B HGNC NCBI

Linked Data

dbSNP Id: rs1865612098
gnomAD v4: 11-112086758-T-C
MyVariant Identifiers: chr11:g.111957482T>C (hg19) chr11:g.112086758T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086758T>C , CM000673.2:g.112086758T>C GRCh38
NC_000011.9:g.111957482T>C , CM000673.1:g.111957482T>C GRCh37
NC_000011.8:g.111462692T>C NCBI36
NG_012337.2:g.4912T>C
NG_033145.1:g.5041A>G
NG_012337.3:g.4912T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504148.2:c.-35A>G ENSP00000422122.2:n.-35A>G
ENST00000509359.6:c.-35A>G ENSP00000421964.2:n.-35A>G
ENST00000541231.1:c.11A>G ENSP00000438455.1:p.His4Arg
NM_012459.2:c.11A>G NP_036591.2:p.His4Arg
NR_028383.1:n.41A>G
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