Canonical Allele Identifier: CA382616496

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086751-A-C
• MyVariant Identifiers: chr11:g.111957475A>C (hg19) ; chr11:g.112086751A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086751A>C , CM000673.2:g.112086751A>C	GRCh38
NC_000011.9:g.111957475A>C , CM000673.1:g.111957475A>C	GRCh37
NC_000011.8:g.111462685A>C	NCBI36
NG_012337.2:g.4905A>C
NG_033145.1:g.5048T>G
NG_012337.3:g.4905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-28T>G MANE Select	ENSP00000422122.2:n.-28T>G
ENST00000504148.2:c.-28T>G	ENSP00000422122.2:n.-28T>G
ENST00000509359.6:c.-28T>G	ENSP00000421964.2:n.-28T>G
ENST00000541231.1:c.18T>G	ENSP00000438455.1:p.Cys6Trp
NM_012459.2:c.18T>G	NP_036591.2:p.Cys6Trp
NR_028383.1:n.48T>G
NM_012459.3:c.-28T>G	NP_036591.3:n.-28T>G
NR_028383.2:n.6T>G
NR_160400.1:n.6T>G
NM_012459.4:c.-28T>G MANE Select	NP_036591.3:n.-28T>G