Canonical Allele Identifier: CA6277630

Gene: TIMM8B

Linked Data

• dbSNP Id: rs767037177
• ExAC: 11:111957469 C / T
• gnomAD v2: 11-111957469-C-T
• gnomAD v4: 11-112086745-C-T
• MyVariant Identifiers: chr11:g.111957469C>T (hg19) ; chr11:g.112086745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086745C>T , CM000673.2:g.112086745C>T	GRCh38
NC_000011.9:g.111957469C>T , CM000673.1:g.111957469C>T	GRCh37
NC_000011.8:g.111462679C>T	NCBI36
NG_012337.2:g.4899C>T
NG_033145.1:g.5054G>A
NG_012337.3:g.4899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-22G>A MANE Select	ENSP00000422122.2:n.-22G>A
ENST00000504148.2:c.-22G>A	ENSP00000422122.2:n.-22G>A
ENST00000509359.6:c.-22G>A	ENSP00000421964.2:n.-22G>A
ENST00000541231.1:c.24G>A	ENSP00000438455.1:p.Lys8=
NM_012459.2:c.24G>A	NP_036591.2:p.Lys8=
NR_028383.1:n.54G>A
NM_012459.3:c.-22G>A	NP_036591.3:n.-22G>A
NR_028383.2:n.12G>A
NR_160400.1:n.12G>A
NM_012459.4:c.-22G>A MANE Select	NP_036591.3:n.-22G>A