Canonical Allele Identifier: CA476788966

Gene: TIMM8B

Linked Data

• MyVariant Identifiers: chr11:g.111957442C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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