Canonical Allele Identifier: CA6277622
Gene: TIMM8B HGNC NCBI

Linked Data

dbSNP Id: rs374827058
ExAC: 11:111957454 C / T
gnomAD v2: 11-111957454-C-T
gnomAD v3: 11-112086730-C-T
gnomAD v4: 11-112086730-C-T
MyVariant Identifiers: chr11:g.111957454C>T (hg19) chr11:g.112086730C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086730C>T , CM000673.2:g.112086730C>T GRCh38
NC_000011.9:g.111957454C>T , CM000673.1:g.111957454C>T GRCh37
NC_000011.8:g.111462664C>T NCBI36
NG_012337.2:g.4884C>T
NG_033145.1:g.5069G>A
NG_012337.3:g.4884C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504148.3:c.-7G>A MANE Select ENSP00000422122.2:n.-7G>A
ENST00000504148.2:c.-7G>A ENSP00000422122.2:n.-7G>A
ENST00000509359.6:c.-7G>A ENSP00000421964.2:n.-7G>A
ENST00000541231.1:c.39G>A ENSP00000438455.1:p.Arg13=
NM_012459.2:c.39G>A NP_036591.2:p.Arg13=
NR_028383.1:n.69G>A
NM_012459.3:c.-7G>A NP_036591.3:n.-7G>A
NR_028383.2:n.27G>A
NR_160400.1:n.27G>A
NM_012459.4:c.-7G>A MANE Select NP_036591.3:n.-7G>A
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