Canonical Allele Identifier: CA347653579
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96254959-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254959C>A , CM000664.2:g.96254959C>A GRCh38
NC_000002.11:g.96920697C>A , CM000664.1:g.96920697C>A GRCh37
NC_000002.10:g.96284424C>A NCBI36
NG_027695.1:g.16055G>T , LRG_528:g.16055G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.283G>T MANE Select ENSP00000258439.3:p.Val95Phe
ENST00000258439.7:c.283G>T ENSP00000258439.2:p.Val95Phe
ENST00000432959.1:c.283G>T ENSP00000416660.1:p.Val95Phe
ENST00000435268.1:c.31G>T ENSP00000411810.1:p.Val11Phe
NM_001193304.2:c.283G>T NP_001180233.1:p.Val95Phe
NM_017849.3:c.283G>T , LRG_528t1:c.283G>T NP_060319.1:p.Val95Phe
XM_017004450.1:c.-636G>T XP_016859939.1:n.-636G>T
XM_017004452.1:c.31G>T XP_016859941.1:p.Val11Phe
NM_001193304.3:c.283G>T NP_001180233.1:p.Val95Phe
NM_017849.4:c.283G>T MANE Select NP_060319.1:p.Val95Phe