Canonical Allele Identifier: CA413913995

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101346638-C-A
• MyVariant Identifiers: chrX:g.100601626C>A (hg19) ; chrX:g.101346638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101346638C>A , CM000685.2:g.101346638C>A	GRCh38
NC_000023.10:g.100601626C>A , CM000685.1:g.100601626C>A	GRCh37
NC_000023.9:g.100488282C>A	NCBI36
NG_011734.1:g.7332G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372902.4:c.155G>T MANE Select	ENSP00000361993.3:p.Gly52Val
ENST00000644112.2:c.*1749G>T	ENSP00000494385.1:n.*1749G>T
ENST00000645279.1:c.*349G>T	ENSP00000494239.1:n.*349G>T
ENST00000647480.1:n.672G>T
ENST00000372902.3:c.155G>T	ENSP00000361993.3:p.Gly52Val
NM_004085.3:c.155G>T	NP_004076.1:p.Gly52Val
NM_004085.4:c.155G>T MANE Select	NP_004076.1:p.Gly52Val
NM_001145951.2:c.*1749G>T	NP_001139423.1:n.*1749G>T