Canonical Allele Identifier: CA476788971

Gene: TIMM8B

Linked Data

• dbSNP Id: rs1865610342
• gnomAD v3: 11-112086727-T-C
• gnomAD v4: 11-112086727-T-C
• MyVariant Identifiers: chr11:g.111957451T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086727T>C , CM000673.2:g.112086727T>C	GRCh38
NC_000011.9:g.111957451T>C , CM000673.1:g.111957451T>C	GRCh37
NC_000011.8:g.111462661T>C	NCBI36
NG_012337.2:g.4881T>C
NG_033145.1:g.5072A>G
NG_012337.3:g.4881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-4A>G MANE Select	ENSP00000422122.2:n.-4A>G
ENST00000504148.2:c.-4A>G	ENSP00000422122.2:n.-4A>G
ENST00000509359.6:c.-4A>G	ENSP00000421964.2:n.-4A>G
ENST00000541231.1:c.42A>G	ENSP00000438455.1:p.Arg14=
NM_012459.2:c.42A>G	NP_036591.2:p.Arg14=
NR_028383.1:n.72A>G
NM_012459.3:c.-4A>G	NP_036591.3:n.-4A>G
NR_028383.2:n.30A>G
NR_160400.1:n.30A>G
NM_012459.4:c.-4A>G MANE Select	NP_036591.3:n.-4A>G