Canonical Allele Identifier: CA6277618

Gene: TIMM8B

Linked Data

• dbSNP Id: rs756774737
• ExAC: 11:111957446 A / G
• gnomAD v2: 11-111957446-A-G
• gnomAD v3: 11-112086722-A-G
• gnomAD v4: 11-112086722-A-G
• MyVariant Identifiers: chr11:g.111957446A>G (hg19) ; chr11:g.112086722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086722A>G , CM000673.2:g.112086722A>G	GRCh38
NC_000011.9:g.111957446A>G , CM000673.1:g.111957446A>G	GRCh37
NC_000011.8:g.111462656A>G	NCBI36
NG_012337.2:g.4876A>G
NG_033145.1:g.5077T>C
NG_012337.3:g.4876A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.2T>C MANE Select	ENSP00000422122.2:p.Met1Thr
ENST00000504148.2:c.2T>C	ENSP00000422122.2:p.Met1Thr
ENST00000507614.1:n.1T>C
ENST00000509359.6:c.2T>C	ENSP00000421964.2:p.Met1Thr
ENST00000541231.1:c.47T>C	ENSP00000438455.1:p.Met16Thr
NM_012459.2:c.47T>C	NP_036591.2:p.Met16Thr
NR_028383.1:n.77T>C
NM_012459.3:c.2T>C	NP_036591.3:p.Met1Thr
NR_028383.2:n.35T>C
NR_160400.1:n.35T>C
NM_012459.4:c.2T>C MANE Select	NP_036591.3:p.Met1Thr