Canonical Allele Identifier: CA228549897

Gene: TIMM8B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.5C>G MANE Select	ENSP00000422122.2:p.Ala2Gly
ENST00000504148.2:c.5C>G	ENSP00000422122.2:p.Ala2Gly
ENST00000507614.1:n.4C>G
ENST00000509359.6:c.5C>G	ENSP00000421964.2:p.Ala2Gly
ENST00000541231.1:c.50C>G	ENSP00000438455.1:p.Ala17Gly
NM_012459.2:c.50C>G	NP_036591.2:p.Ala17Gly
NR_028383.1:n.80C>G
NM_012459.3:c.5C>G	NP_036591.3:p.Ala2Gly
NR_028383.2:n.38C>G
NR_160400.1:n.38C>G
NM_012459.4:c.5C>G MANE Select	NP_036591.3:p.Ala2Gly