Canonical Allele Identifier: CA382616388

Gene: TIMM8B

Linked Data

• MyVariant Identifiers: chr11:g.111957449G>T (hg19) ; chr11:g.112086725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086725G>T , CM000673.2:g.112086725G>T	GRCh38
NC_000011.9:g.111957449G>T , CM000673.1:g.111957449G>T	GRCh37
NC_000011.8:g.111462659G>T	NCBI36
NG_012337.2:g.4879G>T
NG_033145.1:g.5074C>A
NG_012337.3:g.4879G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.-2C>A MANE Select	ENSP00000422122.2:n.-2C>A
ENST00000504148.2:c.-2C>A	ENSP00000422122.2:n.-2C>A
ENST00000509359.6:c.-2C>A	ENSP00000421964.2:n.-2C>A
ENST00000541231.1:c.44C>A	ENSP00000438455.1:p.Thr15Lys
NM_012459.2:c.44C>A	NP_036591.2:p.Thr15Lys
NR_028383.1:n.74C>A
NM_012459.3:c.-2C>A	NP_036591.3:n.-2C>A
NR_028383.2:n.32C>A
NR_160400.1:n.32C>A
NM_012459.4:c.-2C>A MANE Select	NP_036591.3:n.-2C>A