Canonical Allele Identifier: CA382616343

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086717-C-A
• MyVariant Identifiers: chr11:g.111957441C>A (hg19) ; chr11:g.112086717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086717C>A , CM000673.2:g.112086717C>A	GRCh38
NC_000011.9:g.111957441C>A , CM000673.1:g.111957441C>A	GRCh37
NC_000011.8:g.111462651C>A	NCBI36
NG_012337.2:g.4871C>A
NG_033145.1:g.5082G>T
NG_012337.3:g.4871C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.7G>T MANE Select	ENSP00000422122.2:p.Glu3Ter
ENST00000504148.2:c.7G>T	ENSP00000422122.2:p.Glu3Ter
ENST00000507614.1:n.6G>T
ENST00000509359.6:c.7G>T	ENSP00000421964.2:p.Glu3Ter
ENST00000541231.1:c.52G>T	ENSP00000438455.1:p.Glu18Ter
NM_012459.2:c.52G>T	NP_036591.2:p.Glu18Ter
NR_028383.1:n.82G>T
NM_012459.3:c.7G>T	NP_036591.3:p.Glu3Ter
NR_028383.2:n.40G>T
NR_160400.1:n.40G>T
NM_012459.4:c.7G>T MANE Select	NP_036591.3:p.Glu3Ter