Canonical Allele Identifier: CA195674
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 186727
dbSNP Id: rs750870974
gnomAD v2: 2-96920586-C-T
gnomAD v3: 2-96254848-C-T
gnomAD v4: 2-96254848-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254848C>T , CM000664.2:g.96254848C>T GRCh38
NC_000002.11:g.96920586C>T , CM000664.1:g.96920586C>T GRCh37
NC_000002.10:g.96284313C>T NCBI36
NG_027695.1:g.16166G>A , LRG_528:g.16166G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.394G>A MANE Select ENSP00000258439.3:p.Ala132Thr
ENST00000258439.7:c.394G>A ENSP00000258439.2:p.Ala132Thr
ENST00000432959.1:c.394G>A ENSP00000416660.1:p.Ala132Thr
ENST00000435268.1:c.142G>A ENSP00000411810.1:p.Ala48Thr
NM_001193304.2:c.394G>A NP_001180233.1:p.Ala132Thr
NM_017849.3:c.394G>A , LRG_528t1:c.394G>A NP_060319.1:p.Ala132Thr
XM_017004450.1:c.-525G>A XP_016859939.1:n.-525G>A
XM_017004452.1:c.142G>A XP_016859941.1:p.Ala48Thr
NM_001193304.3:c.394G>A NP_001180233.1:p.Ala132Thr
NM_017849.4:c.394G>A MANE Select NP_060319.1:p.Ala132Thr