Canonical Allele Identifier: CA347656045
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2624742
ClinVar RCV Id: RCV003377576
dbSNP Id: rs144659242
gnomAD v4: 2-96265246-T-G
MyVariant Identifiers: chr2:g.96930984T>G (hg19) chr2:g.96265246T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265246T>G , CM000664.2:g.96265246T>G GRCh38
NC_000002.11:g.96930984T>G , CM000664.1:g.96930984T>G GRCh37
NC_000002.10:g.96294711T>G NCBI36
NG_027695.1:g.5768A>C , LRG_528:g.5768A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.136A>C MANE Select ENSP00000258439.3:p.Thr46Pro
ENST00000258439.7:c.136A>C ENSP00000258439.2:p.Thr46Pro
ENST00000432959.1:c.136A>C ENSP00000416660.1:p.Thr46Pro
NM_001193304.2:c.136A>C NP_001180233.1:p.Thr46Pro
NM_017849.3:c.136A>C , LRG_528t1:c.136A>C NP_060319.1:p.Thr46Pro
NM_001193304.3:c.136A>C NP_001180233.1:p.Thr46Pro
NM_017849.4:c.136A>C MANE Select NP_060319.1:p.Thr46Pro
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