Canonical Allele Identifier: CA2694293745

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348729-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348729C>A , CM000685.2:g.101348729C>A	GRCh38
NC_000023.10:g.100603717C>A , CM000685.1:g.100603717C>A	GRCh37
NC_000023.9:g.100490373C>A	NCBI36
NG_009616.1:g.42496G>T , LRG_128:g.42496G>T
NG_011734.1:g.5241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.-65G>T MANE Select	ENSP00000361993.3:n.-65G>T
ENST00000644112.2:c.-65G>T	ENSP00000494385.1:n.-65G>T
ENST00000372902.3:c.-65G>T	ENSP00000361993.3:n.-65G>T
ENST00000480575.1:n.21G>T
NM_004085.3:c.-65G>T	NP_004076.1:n.-65G>T
NM_004085.4:c.-65G>T MANE Select	NP_004076.1:n.-65G>T
NM_001145951.2:c.-65G>T	NP_001139423.1:n.-65G>T