Canonical Allele Identifier: CA382616395

Gene: TIMM8B

Linked Data

• MyVariant Identifiers: chr11:g.111957450T>G (hg19) ; chr11:g.112086726T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086726T>G , CM000673.2:g.112086726T>G	GRCh38
NC_000011.9:g.111957450T>G , CM000673.1:g.111957450T>G	GRCh37
NC_000011.8:g.111462660T>G	NCBI36
NG_012337.2:g.4880T>G
NG_033145.1:g.5073A>C
NG_012337.3:g.4880T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.-3A>C MANE Select	ENSP00000422122.2:n.-3A>C
ENST00000504148.2:c.-3A>C	ENSP00000422122.2:n.-3A>C
ENST00000509359.6:c.-3A>C	ENSP00000421964.2:n.-3A>C
ENST00000541231.1:c.43A>C	ENSP00000438455.1:p.Thr15Pro
NM_012459.2:c.43A>C	NP_036591.2:p.Thr15Pro
NR_028383.1:n.73A>C
NM_012459.3:c.-3A>C	NP_036591.3:n.-3A>C
NR_028383.2:n.31A>C
NR_160400.1:n.31A>C
NM_012459.4:c.-3A>C MANE Select	NP_036591.3:n.-3A>C