Canonical Allele Identifier: CA382616510
Gene: TIMM8B HGNC NCBI

Linked Data

ClinVar Variation Id: 2295604
ClinVar RCV Id: RCV004140711
dbSNP Id: rs1414149007
gnomAD v2: 11-111957479-C-T
gnomAD v3: 11-112086755-C-T
gnomAD v4: 11-112086755-C-T
MyVariant Identifiers: chr11:g.111957479C>T (hg19) chr11:g.112086755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086755C>T , CM000673.2:g.112086755C>T GRCh38
NC_000011.9:g.111957479C>T , CM000673.1:g.111957479C>T GRCh37
NC_000011.8:g.111462689C>T NCBI36
NG_012337.2:g.4909C>T
NG_033145.1:g.5044G>A
NG_012337.3:g.4909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504148.3:c.-32G>A MANE Select ENSP00000422122.2:n.-32G>A
ENST00000504148.2:c.-32G>A ENSP00000422122.2:n.-32G>A
ENST00000509359.6:c.-32G>A ENSP00000421964.2:n.-32G>A
ENST00000541231.1:c.14G>A ENSP00000438455.1:p.Ser5Asn
NM_012459.2:c.14G>A NP_036591.2:p.Ser5Asn
NR_028383.1:n.44G>A
NM_012459.3:c.-32G>A NP_036591.3:n.-32G>A
NR_028383.2:n.2G>A
NR_160400.1:n.2G>A
NM_012459.4:c.-32G>A MANE Select NP_036591.3:n.-32G>A
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