Canonical Allele Identifier: CA1777392

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 463838
• ClinVar RCV Id: RCV000534477 ; RCV001011202 ; RCV003322782 ; RCV003392381
• dbSNP Id: rs144659242
• ExAC: 2:96930984 T / C
• gnomAD v2: 2-96930984-T-C
• gnomAD v3: 2-96265246-T-C
• gnomAD v4: 2-96265246-T-C
• MyVariant Identifiers: chr2:g.96930984T>C (hg19) ; chr2:g.96265246T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.136A>G MANE Select	ENSP00000258439.3:p.Thr46Ala
ENST00000258439.7:c.136A>G	ENSP00000258439.2:p.Thr46Ala
ENST00000432959.1:c.136A>G	ENSP00000416660.1:p.Thr46Ala
NM_001193304.2:c.136A>G	NP_001180233.1:p.Thr46Ala
NM_017849.3:c.136A>G , LRG_528t1:c.136A>G	NP_060319.1:p.Thr46Ala
NM_001193304.3:c.136A>G	NP_001180233.1:p.Thr46Ala
NM_017849.4:c.136A>G MANE Select	NP_060319.1:p.Thr46Ala