Canonical Allele Identifier: CA2660175812
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96252412-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96252412C>A , CM000664.2:g.96252412C>A GRCh38
NC_000002.11:g.96918150C>A , CM000664.1:g.96918150C>A GRCh37
NC_000002.10:g.96281877C>A NCBI36
NG_027695.1:g.18602G>T , LRG_528:g.18602G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*1396G>T MANE Select ENSP00000258439.3:n.*1396G>T
ENST00000258439.7:c.*1396G>T ENSP00000258439.2:n.*1396G>T
ENST00000432959.1:c.*1396G>T ENSP00000416660.1:n.*1396G>T
NM_001193304.2:c.*1396G>T NP_001180233.1:n.*1396G>T
NM_017849.3:c.*1396G>T , LRG_528t1:c.*1396G>T NP_060319.1:n.*1396G>T
XM_017004450.1:c.*697G>T XP_016859939.1:n.*697G>T
XM_017004452.1:c.*1396G>T XP_016859941.1:n.*1396G>T
NM_001193304.3:c.*1396G>T NP_001180233.1:n.*1396G>T
NM_017849.4:c.*1396G>T MANE Select NP_060319.1:n.*1396G>T