Canonical Allele Identifier: CA347652574
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 935374
dbSNP Id: rs1684149438

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254007A>C , CM000664.2:g.96254007A>C GRCh38
NC_000002.11:g.96919745A>C , CM000664.1:g.96919745A>C GRCh37
NC_000002.10:g.96283472A>C NCBI36
NG_027695.1:g.17007T>G , LRG_528:g.17007T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.518T>G MANE Select ENSP00000258439.3:p.Phe173Cys
ENST00000258439.7:c.518T>G ENSP00000258439.2:p.Phe173Cys
ENST00000432959.1:c.518T>G ENSP00000416660.1:p.Phe173Cys
ENST00000435268.1:c.266T>G ENSP00000411810.1:p.Phe89Cys
NM_001193304.2:c.518T>G NP_001180233.1:p.Phe173Cys
NM_017849.3:c.518T>G , LRG_528t1:c.518T>G NP_060319.1:p.Phe173Cys
XM_017004450.1:c.-401T>G XP_016859939.1:n.-401T>G
XM_017004452.1:c.266T>G XP_016859941.1:p.Phe89Cys
NM_001193304.3:c.518T>G NP_001180233.1:p.Phe173Cys
NM_017849.4:c.518T>G MANE Select NP_060319.1:p.Phe173Cys