Canonical Allele Identifier: CA347656063
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414176
ClinVar RCV Id: RCV001945219
dbSNP Id: rs2104307898
gnomAD v4: 2-96265255-C-T
MyVariant Identifiers: chr2:g.96930993C>T (hg19) chr2:g.96265255C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265255C>T , CM000664.2:g.96265255C>T GRCh38
NC_000002.11:g.96930993C>T , CM000664.1:g.96930993C>T GRCh37
NC_000002.10:g.96294720C>T NCBI36
NG_027695.1:g.5759G>A , LRG_528:g.5759G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.127G>A MANE Select ENSP00000258439.3:p.Ala43Thr
ENST00000258439.7:c.127G>A ENSP00000258439.2:p.Ala43Thr
ENST00000432959.1:c.127G>A ENSP00000416660.1:p.Ala43Thr
NM_001193304.2:c.127G>A NP_001180233.1:p.Ala43Thr
NM_017849.3:c.127G>A , LRG_528t1:c.127G>A NP_060319.1:p.Ala43Thr
NM_001193304.3:c.127G>A NP_001180233.1:p.Ala43Thr
NM_017849.4:c.127G>A MANE Select NP_060319.1:p.Ala43Thr
Search 100 bp 5'
Search 100 bp 3'