Canonical Allele Identifier: CA10588348
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 265271
ClinVar RCV Id: RCV001250425
dbSNP Id: rs886039439
gnomAD v2: 2-96919799-A-T
gnomAD v3: 2-96254061-A-T
gnomAD v4: 2-96254061-A-T
MyVariant Identifiers: chr2:g.96919799A>T (hg19) chr2:g.96254061A>T (hg38)
PubMed: PMID:26960314
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254061A>T , CM000664.2:g.96254061A>T GRCh38
NC_000002.11:g.96919799A>T , CM000664.1:g.96919799A>T GRCh37
NC_000002.10:g.96283526A>T NCBI36
NG_027695.1:g.16953T>A , LRG_528:g.16953T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.464T>A MANE Select ENSP00000258439.3:p.Leu155Ter
ENST00000258439.7:c.464T>A ENSP00000258439.2:p.Leu155Ter
ENST00000432959.1:c.464T>A ENSP00000416660.1:p.Leu155Ter
ENST00000435268.1:c.212T>A ENSP00000411810.1:p.Leu71Ter
NM_001193304.2:c.464T>A NP_001180233.1:p.Leu155Ter
NM_017849.3:c.464T>A , LRG_528t1:c.464T>A NP_060319.1:p.Leu155Ter
XM_017004450.1:c.-455T>A XP_016859939.1:n.-455T>A
XM_017004452.1:c.212T>A XP_016859941.1:p.Leu71Ter
NM_001193304.3:c.464T>A NP_001180233.1:p.Leu155Ter
NM_017849.4:c.464T>A MANE Select NP_060319.1:p.Leu155Ter
Search 100 bp 5'
Search 100 bp 3'