Canonical Allele Identifier: CA347656033
Gene: TMEM127 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265240G>C , CM000664.2:g.96265240G>C GRCh38
NC_000002.11:g.96930978G>C , CM000664.1:g.96930978G>C GRCh37
NC_000002.10:g.96294705G>C NCBI36
NG_027695.1:g.5774C>G , LRG_528:g.5774C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.142C>G MANE Select ENSP00000258439.3:p.Leu48Val
ENST00000258439.7:c.142C>G ENSP00000258439.2:p.Leu48Val
ENST00000432959.1:c.142C>G ENSP00000416660.1:p.Leu48Val
NM_001193304.2:c.142C>G NP_001180233.1:p.Leu48Val
NM_017849.3:c.142C>G , LRG_528t1:c.142C>G NP_060319.1:p.Leu48Val
NM_001193304.3:c.142C>G NP_001180233.1:p.Leu48Val
NM_017849.4:c.142C>G MANE Select NP_060319.1:p.Leu48Val