Canonical Allele Identifier: CA476788986

Gene: TIMM8B

Linked Data

• dbSNP Id: rs1398761627
• gnomAD v2: 11-111957472-C-G
• gnomAD v4: 11-112086748-C-G
• MyVariant Identifiers: chr11:g.111957472C>G (hg19) ; chr11:g.112086748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086748C>G , CM000673.2:g.112086748C>G	GRCh38
NC_000011.9:g.111957472C>G , CM000673.1:g.111957472C>G	GRCh37
NC_000011.8:g.111462682C>G	NCBI36
NG_012337.2:g.4902C>G
NG_033145.1:g.5051G>C
NG_012337.3:g.4902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-25G>C MANE Select	ENSP00000422122.2:n.-25G>C
ENST00000504148.2:c.-25G>C	ENSP00000422122.2:n.-25G>C
ENST00000509359.6:c.-25G>C	ENSP00000421964.2:n.-25G>C
ENST00000541231.1:c.21G>C	ENSP00000438455.1:p.Arg7=
NM_012459.2:c.21G>C	NP_036591.2:p.Arg7=
NR_028383.1:n.51G>C
NM_012459.3:c.-25G>C	NP_036591.3:n.-25G>C
NR_028383.2:n.9G>C
NR_160400.1:n.9G>C
NM_012459.4:c.-25G>C MANE Select	NP_036591.3:n.-25G>C