Canonical Allele Identifier: CA347656112
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 582892
ClinVar RCV Id: RCV000707080
dbSNP Id: rs1451389209
gnomAD v4: 2-96265281-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265281G>T , CM000664.2:g.96265281G>T GRCh38
NC_000002.11:g.96931019G>T , CM000664.1:g.96931019G>T GRCh37
NC_000002.10:g.96294746G>T NCBI36
NG_027695.1:g.5733C>A , LRG_528:g.5733C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.101C>A MANE Select ENSP00000258439.3:p.Ala34Asp
ENST00000258439.7:c.101C>A ENSP00000258439.2:p.Ala34Asp
ENST00000432959.1:c.101C>A ENSP00000416660.1:p.Ala34Asp
NM_001193304.2:c.101C>A NP_001180233.1:p.Ala34Asp
NM_017849.3:c.101C>A , LRG_528t1:c.101C>A NP_060319.1:p.Ala34Asp
NM_001193304.3:c.101C>A NP_001180233.1:p.Ala34Asp
NM_017849.4:c.101C>A MANE Select NP_060319.1:p.Ala34Asp