Canonical Allele Identifier: CA517528231

Gene: TIMM8A

Linked Data

• MyVariant Identifiers: chrX:g.100603530T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348542T>C , CM000685.2:g.101348542T>C	GRCh38
NC_000023.10:g.100603530T>C , CM000685.1:g.100603530T>C	GRCh37
NC_000023.9:g.100490186T>C	NCBI36
NG_009616.1:g.42683A>G , LRG_128:g.42683A>G
NG_011734.1:g.5428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.123A>G MANE Select	ENSP00000361993.3:p.Glu41=
ENST00000644112.2:c.123A>G	ENSP00000494385.1:p.Glu41=
ENST00000645279.1:c.123A>G	ENSP00000494239.1:p.Glu41=
ENST00000647480.1:n.34A>G
ENST00000372902.3:c.123A>G	ENSP00000361993.3:p.Glu41=
ENST00000480575.1:n.208A>G
NM_001145951.1:c.123A>G	NP_001139423.1:p.Glu41=
NM_004085.3:c.123A>G	NP_004076.1:p.Glu41=
NM_004085.4:c.123A>G MANE Select	NP_004076.1:p.Glu41=
NM_001145951.2:c.123A>G	NP_001139423.1:p.Glu41=