Canonical Allele Identifier: CA869301402

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1290286837
• gnomAD v4: X-101348145-G-A
• MyVariant Identifiers: chrX:g.101348145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348145G>A , CM000685.2:g.101348145G>A	GRCh38
NC_000023.10:g.100603133G>A , CM000685.1:g.100603133G>A	GRCh37
NC_000023.9:g.100489789G>A	NCBI36
NG_009616.1:g.43080C>T , LRG_128:g.43080C>T
NG_011734.1:g.5825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+388C>T MANE Select	ENSP00000361993.3:n.132+388C>T
ENST00000644112.2:c.*242C>T	ENSP00000494385.1:n.*242C>T
ENST00000645279.1:c.*242C>T	ENSP00000494239.1:n.*242C>T
ENST00000647480.1:n.431C>T
ENST00000372902.3:c.132+388C>T	ENSP00000361993.3:n.132+388C>T
ENST00000480575.1:n.474C>T
NM_001145951.1:c.*242C>T	NP_001139423.1:n.*242C>T
NM_004085.3:c.132+388C>T	NP_004076.1:n.132+388C>T
NM_004085.4:c.132+388C>T MANE Select	NP_004076.1:n.132+388C>T
NM_001145951.2:c.*242C>T	NP_001139423.1:n.*242C>T