Canonical Allele Identifier: CA6277635

Gene: TIMM8B

Linked Data

• dbSNP Id: rs756852334
• ExAC: 11:111957490 C / T
• gnomAD v2: 11-111957490-C-T
• gnomAD v3: 11-112086766-C-T
• gnomAD v4: 11-112086766-C-T
• MyVariant Identifiers: chr11:g.111957490C>T (hg19) ; chr11:g.112086766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086766C>T , CM000673.2:g.112086766C>T	GRCh38
NC_000011.9:g.111957490C>T , CM000673.1:g.111957490C>T	GRCh37
NC_000011.8:g.111462700C>T	NCBI36
NG_012337.2:g.4920C>T
NG_033145.1:g.5033G>A
NG_012337.3:g.4920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.2:c.-43G>A	ENSP00000422122.2:n.-43G>A
ENST00000509359.6:c.-43G>A	ENSP00000421964.2:n.-43G>A
ENST00000541231.1:c.3G>A	ENSP00000438455.1:p.Met1Ile
NM_012459.2:c.3G>A	NP_036591.2:p.Met1Ile
NR_028383.1:n.33G>A