Canonical Allele Identifier: CA6277616

Gene: TIMM8B

Linked Data

• dbSNP Id: rs777356583
• ExAC: 11:111957442 C / T
• gnomAD v2: 11-111957442-C-T
• gnomAD v3: 11-112086718-C-T
• gnomAD v4: 11-112086718-C-T
• MyVariant Identifiers: chr11:g.111957442C>T (hg19) ; chr11:g.112086718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086718C>T , CM000673.2:g.112086718C>T	GRCh38
NC_000011.9:g.111957442C>T , CM000673.1:g.111957442C>T	GRCh37
NC_000011.8:g.111462652C>T	NCBI36
NG_012337.2:g.4872C>T
NG_033145.1:g.5081G>A
NG_012337.3:g.4872C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.6G>A MANE Select	ENSP00000422122.2:p.Ala2=
ENST00000504148.2:c.6G>A	ENSP00000422122.2:p.Ala2=
ENST00000507614.1:n.5G>A
ENST00000509359.6:c.6G>A	ENSP00000421964.2:p.Ala2=
ENST00000541231.1:c.51G>A	ENSP00000438455.1:p.Ala17=
NM_012459.2:c.51G>A	NP_036591.2:p.Ala17=
NR_028383.1:n.81G>A
NM_012459.3:c.6G>A	NP_036591.3:p.Ala2=
NR_028383.2:n.39G>A
NR_160400.1:n.39G>A
NM_012459.4:c.6G>A MANE Select	NP_036591.3:p.Ala2=