Canonical Allele Identifier: CA869301542

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1224274256
• gnomAD v3: X-101348476-T-C
• gnomAD v4: X-101348476-T-C
• MyVariant Identifiers: chrX:g.101348476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348476T>C , CM000685.2:g.101348476T>C	GRCh38
NC_000023.10:g.100603464T>C , CM000685.1:g.100603464T>C	GRCh37
NC_000023.9:g.100490120T>C	NCBI36
NG_009616.1:g.42749A>G , LRG_128:g.42749A>G
NG_011734.1:g.5494A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372902.4:c.132+57A>G MANE Select	ENSP00000361993.3:n.132+57A>G
ENST00000644112.2:c.132+57A>G	ENSP00000494385.1:n.132+57A>G
ENST00000645279.1:c.132+57A>G	ENSP00000494239.1:n.132+57A>G
ENST00000647480.1:n.100A>G
ENST00000372902.3:c.132+57A>G	ENSP00000361993.3:n.132+57A>G
ENST00000480575.1:n.217+57A>G
NM_001145951.1:c.132+57A>G	NP_001139423.1:n.132+57A>G
NM_004085.3:c.132+57A>G	NP_004076.1:n.132+57A>G
NM_004085.4:c.132+57A>G MANE Select	NP_004076.1:n.132+57A>G
NM_001145951.2:c.132+57A>G	NP_001139423.1:n.132+57A>G