Canonical Allele Identifier: CA382616369

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086722-A-T
• MyVariant Identifiers: chr11:g.111957446A>T (hg19) ; chr11:g.112086722A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086722A>T , CM000673.2:g.112086722A>T	GRCh38
NC_000011.9:g.111957446A>T , CM000673.1:g.111957446A>T	GRCh37
NC_000011.8:g.111462656A>T	NCBI36
NG_012337.2:g.4876A>T
NG_033145.1:g.5077T>A
NG_012337.3:g.4876A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.2T>A MANE Select	ENSP00000422122.2:p.Met1Lys
ENST00000504148.2:c.2T>A	ENSP00000422122.2:p.Met1Lys
ENST00000507614.1:n.1T>A
ENST00000509359.6:c.2T>A	ENSP00000421964.2:p.Met1Lys
ENST00000541231.1:c.47T>A	ENSP00000438455.1:p.Met16Lys
NM_012459.2:c.47T>A	NP_036591.2:p.Met16Lys
NR_028383.1:n.77T>A
NM_012459.3:c.2T>A	NP_036591.3:p.Met1Lys
NR_028383.2:n.35T>A
NR_160400.1:n.35T>A
NM_012459.4:c.2T>A MANE Select	NP_036591.3:p.Met1Lys