Canonical Allele Identifier: CA382616512

Gene: TIMM8B

Linked Data

• dbSNP Id: rs1865611971
• MyVariant Identifiers: chr11:g.111957480T>G (hg19) ; chr11:g.112086756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086756T>G , CM000673.2:g.112086756T>G	GRCh38
NC_000011.9:g.111957480T>G , CM000673.1:g.111957480T>G	GRCh37
NC_000011.8:g.111462690T>G	NCBI36
NG_012337.2:g.4910T>G
NG_033145.1:g.5043A>C
NG_012337.3:g.4910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-33A>C MANE Select	ENSP00000422122.2:n.-33A>C
ENST00000504148.2:c.-33A>C	ENSP00000422122.2:n.-33A>C
ENST00000509359.6:c.-33A>C	ENSP00000421964.2:n.-33A>C
ENST00000541231.1:c.13A>C	ENSP00000438455.1:p.Ser5Arg
NM_012459.2:c.13A>C	NP_036591.2:p.Ser5Arg
NR_028383.1:n.43A>C
NM_012459.3:c.-33A>C	NP_036591.3:n.-33A>C
NR_028383.2:n.1A>C
NR_160400.1:n.1A>C
NM_012459.4:c.-33A>C MANE Select	NP_036591.3:n.-33A>C