Canonical Allele Identifier: CA228549946

Gene: TIMM8B

Linked Data

• dbSNP Id: rs371410717
• gnomAD v2: 11-111957461-C-G
• gnomAD v3: 11-112086737-C-G
• gnomAD v4: 11-112086737-C-G
• MyVariant Identifiers: chr11:g.111957461C>G (hg19) ; chr11:g.112086737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086737C>G , CM000673.2:g.112086737C>G	GRCh38
NC_000011.9:g.111957461C>G , CM000673.1:g.111957461C>G	GRCh37
NC_000011.8:g.111462671C>G	NCBI36
NG_012337.2:g.4891C>G
NG_033145.1:g.5062G>C
NG_012337.3:g.4891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-14G>C MANE Select	ENSP00000422122.2:n.-14G>C
ENST00000504148.2:c.-14G>C	ENSP00000422122.2:n.-14G>C
ENST00000509359.6:c.-14G>C	ENSP00000421964.2:n.-14G>C
ENST00000541231.1:c.32G>C	ENSP00000438455.1:p.Ser11Thr
NM_012459.2:c.32G>C	NP_036591.2:p.Ser11Thr
NR_028383.1:n.62G>C
NM_012459.3:c.-14G>C	NP_036591.3:n.-14G>C
NR_028383.2:n.20G>C
NR_160400.1:n.20G>C
NM_012459.4:c.-14G>C MANE Select	NP_036591.3:n.-14G>C