Canonical Allele Identifier: CA347656056
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679219
ClinVar RCV Id: RCV003464691
gnomAD v4: 2-96265252-G-C
MyVariant Identifiers: chr2:g.96930990G>C (hg19) chr2:g.96265252G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265252G>C , CM000664.2:g.96265252G>C GRCh38
NC_000002.11:g.96930990G>C , CM000664.1:g.96930990G>C GRCh37
NC_000002.10:g.96294717G>C NCBI36
NG_027695.1:g.5762C>G , LRG_528:g.5762C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.130C>G MANE Select ENSP00000258439.3:p.Leu44Val
ENST00000258439.7:c.130C>G ENSP00000258439.2:p.Leu44Val
ENST00000432959.1:c.130C>G ENSP00000416660.1:p.Leu44Val
NM_001193304.2:c.130C>G NP_001180233.1:p.Leu44Val
NM_017849.3:c.130C>G , LRG_528t1:c.130C>G NP_060319.1:p.Leu44Val
NM_001193304.3:c.130C>G NP_001180233.1:p.Leu44Val
NM_017849.4:c.130C>G MANE Select NP_060319.1:p.Leu44Val
Search 100 bp 5'
Search 100 bp 3'