Canonical Allele Identifier: CA2660175451
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96251751-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251751C>T , CM000664.2:g.96251751C>T GRCh38
NC_000002.11:g.96917489C>T , CM000664.1:g.96917489C>T GRCh37
NC_000002.10:g.96281216C>T NCBI36
NG_027695.1:g.19263G>A , LRG_528:g.19263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2057G>A MANE Select ENSP00000258439.3:n.*2057G>A
ENST00000258439.7:c.*2057G>A ENSP00000258439.2:n.*2057G>A
ENST00000432959.1:c.*2057G>A ENSP00000416660.1:n.*2057G>A
NM_001193304.2:c.*2057G>A NP_001180233.1:n.*2057G>A
NM_017849.3:c.*2057G>A , LRG_528t1:c.*2057G>A NP_060319.1:n.*2057G>A
XM_017004450.1:c.*1358G>A XP_016859939.1:n.*1358G>A
XM_017004452.1:c.*2057G>A XP_016859941.1:n.*2057G>A
NM_001193304.3:c.*2057G>A NP_001180233.1:n.*2057G>A
NM_017849.4:c.*2057G>A MANE Select NP_060319.1:n.*2057G>A