Canonical Allele Identifier: CA382616405

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086729-G-C
• MyVariant Identifiers: chr11:g.111957453G>C (hg19) ; chr11:g.112086729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086729G>C , CM000673.2:g.112086729G>C	GRCh38
NC_000011.9:g.111957453G>C , CM000673.1:g.111957453G>C	GRCh37
NC_000011.8:g.111462663G>C	NCBI36
NG_012337.2:g.4883G>C
NG_033145.1:g.5070C>G
NG_012337.3:g.4883G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.-6C>G MANE Select	ENSP00000422122.2:n.-6C>G
ENST00000504148.2:c.-6C>G	ENSP00000422122.2:n.-6C>G
ENST00000509359.6:c.-6C>G	ENSP00000421964.2:n.-6C>G
ENST00000541231.1:c.40C>G	ENSP00000438455.1:p.Arg14Gly
NM_012459.2:c.40C>G	NP_036591.2:p.Arg14Gly
NR_028383.1:n.70C>G
NM_012459.3:c.-6C>G	NP_036591.3:n.-6C>G
NR_028383.2:n.28C>G
NR_160400.1:n.28C>G
NM_012459.4:c.-6C>G MANE Select	NP_036591.3:n.-6C>G