Canonical Allele Identifier: CA382616415

Gene: TIMM8B

Linked Data

• dbSNP Id: rs1290949087
• gnomAD v2: 11-111957456-T-C
• gnomAD v4: 11-112086732-T-C
• MyVariant Identifiers: chr11:g.111957456T>C (hg19) ; chr11:g.112086732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086732T>C , CM000673.2:g.112086732T>C	GRCh38
NC_000011.9:g.111957456T>C , CM000673.1:g.111957456T>C	GRCh37
NC_000011.8:g.111462666T>C	NCBI36
NG_012337.2:g.4886T>C
NG_033145.1:g.5067A>G
NG_012337.3:g.4886T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.-9A>G MANE Select	ENSP00000422122.2:n.-9A>G
ENST00000504148.2:c.-9A>G	ENSP00000422122.2:n.-9A>G
ENST00000509359.6:c.-9A>G	ENSP00000421964.2:n.-9A>G
ENST00000541231.1:c.37A>G	ENSP00000438455.1:p.Arg13Gly
NM_012459.2:c.37A>G	NP_036591.2:p.Arg13Gly
NR_028383.1:n.67A>G
NM_012459.3:c.-9A>G	NP_036591.3:n.-9A>G
NR_028383.2:n.25A>G
NR_160400.1:n.25A>G
NM_012459.4:c.-9A>G MANE Select	NP_036591.3:n.-9A>G