Canonical Allele Identifier: CA2448281442

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1602996774

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348502A>G , CM000685.2:g.101348502A>G	GRCh38
NC_000023.10:g.100603490A>G , CM000685.1:g.100603490A>G	GRCh37
NC_000023.9:g.100490146A>G	NCBI36
NG_009616.1:g.42723T>C , LRG_128:g.42723T>C
NG_011734.1:g.5468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+31T>C MANE Select	ENSP00000361993.3:n.132+31T>C
ENST00000644112.2:c.132+31T>C	ENSP00000494385.1:n.132+31T>C
ENST00000645279.1:c.132+31T>C	ENSP00000494239.1:n.132+31T>C
ENST00000647480.1:n.74T>C
ENST00000372902.3:c.132+31T>C	ENSP00000361993.3:n.132+31T>C
ENST00000480575.1:n.217+31T>C
NM_001145951.1:c.132+31T>C	NP_001139423.1:n.132+31T>C
NM_004085.3:c.132+31T>C	NP_004076.1:n.132+31T>C
NM_004085.4:c.132+31T>C MANE Select	NP_004076.1:n.132+31T>C
NM_001145951.2:c.132+31T>C	NP_001139423.1:n.132+31T>C