Canonical Allele Identifier: CA382616401

Gene: TIMM8B

Linked Data

• dbSNP Id: rs1232186599
• gnomAD v2: 11-111957452-C-T
• gnomAD v4: 11-112086728-C-T
• MyVariant Identifiers: chr11:g.111957452C>T (hg19) ; chr11:g.112086728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086728C>T , CM000673.2:g.112086728C>T	GRCh38
NC_000011.9:g.111957452C>T , CM000673.1:g.111957452C>T	GRCh37
NC_000011.8:g.111462662C>T	NCBI36
NG_012337.2:g.4882C>T
NG_033145.1:g.5071G>A
NG_012337.3:g.4882C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.-5G>A MANE Select	ENSP00000422122.2:n.-5G>A
ENST00000504148.2:c.-5G>A	ENSP00000422122.2:n.-5G>A
ENST00000509359.6:c.-5G>A	ENSP00000421964.2:n.-5G>A
ENST00000541231.1:c.41G>A	ENSP00000438455.1:p.Arg14Gln
NM_012459.2:c.41G>A	NP_036591.2:p.Arg14Gln
NR_028383.1:n.71G>A
NM_012459.3:c.-5G>A	NP_036591.3:n.-5G>A
NR_028383.2:n.29G>A
NR_160400.1:n.29G>A
NM_012459.4:c.-5G>A MANE Select	NP_036591.3:n.-5G>A