Canonical Allele Identifier: CA382616547

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086765-G-A
• MyVariant Identifiers: chr11:g.111957489G>A (hg19) ; chr11:g.112086765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086765G>A , CM000673.2:g.112086765G>A	GRCh38
NC_000011.9:g.111957489G>A , CM000673.1:g.111957489G>A	GRCh37
NC_000011.8:g.111462699G>A	NCBI36
NG_012337.2:g.4919G>A
NG_033145.1:g.5034C>T
NG_012337.3:g.4919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.2:c.-42C>T	ENSP00000422122.2:n.-42C>T
ENST00000509359.6:c.-42C>T	ENSP00000421964.2:n.-42C>T
ENST00000541231.1:c.4C>T	ENSP00000438455.1:p.Arg2Cys
NM_012459.2:c.4C>T	NP_036591.2:p.Arg2Cys
NR_028383.1:n.34C>T