Canonical Allele Identifier: CA6277617

Gene: TIMM8B

Linked Data

• dbSNP Id: rs368516346
• ExAC: 11:111957443 G / A
• gnomAD v2: 11-111957443-G-A
• gnomAD v3: 11-112086719-G-A
• gnomAD v4: 11-112086719-G-A
• MyVariant Identifiers: chr11:g.111957443G>A (hg19) ; chr11:g.112086719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086719G>A , CM000673.2:g.112086719G>A	GRCh38
NC_000011.9:g.111957443G>A , CM000673.1:g.111957443G>A	GRCh37
NC_000011.8:g.111462653G>A	NCBI36
NG_012337.2:g.4873G>A
NG_033145.1:g.5080C>T
NG_012337.3:g.4873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.5C>T MANE Select	ENSP00000422122.2:p.Ala2Val
ENST00000504148.2:c.5C>T	ENSP00000422122.2:p.Ala2Val
ENST00000507614.1:n.4C>T
ENST00000509359.6:c.5C>T	ENSP00000421964.2:p.Ala2Val
ENST00000541231.1:c.50C>T	ENSP00000438455.1:p.Ala17Val
NM_012459.2:c.50C>T	NP_036591.2:p.Ala17Val
NR_028383.1:n.80C>T
NM_012459.3:c.5C>T	NP_036591.3:p.Ala2Val
NR_028383.2:n.38C>T
NR_160400.1:n.38C>T
NM_012459.4:c.5C>T MANE Select	NP_036591.3:p.Ala2Val