Canonical Allele Identifier: CA113855
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 108
ClinVar RCV Id: RCV000000128 RCV000114833 RCV000164900 RCV001381352
dbSNP Id: rs121908830
MyVariant Identifiers: chr2:g.96919788G>A (hg19) chr2:g.96254050G>A (hg38)
PubMed: PMID:20154675 PMID:21156949
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254050G>A , CM000664.2:g.96254050G>A GRCh38
NC_000002.11:g.96919788G>A , CM000664.1:g.96919788G>A GRCh37
NC_000002.10:g.96283515G>A NCBI36
NG_027695.1:g.16964C>T , LRG_528:g.16964C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.475C>T MANE Select ENSP00000258439.3:p.Gln159Ter
ENST00000258439.7:c.475C>T ENSP00000258439.2:p.Gln159Ter
ENST00000432959.1:c.475C>T ENSP00000416660.1:p.Gln159Ter
ENST00000435268.1:c.223C>T ENSP00000411810.1:p.Gln75Ter
NM_001193304.2:c.475C>T NP_001180233.1:p.Gln159Ter
NM_017849.3:c.475C>T , LRG_528t1:c.475C>T NP_060319.1:p.Gln159Ter
XM_017004450.1:c.-444C>T XP_016859939.1:n.-444C>T
XM_017004452.1:c.223C>T XP_016859941.1:p.Gln75Ter
NM_001193304.3:c.475C>T NP_001180233.1:p.Gln159Ter
NM_017849.4:c.475C>T MANE Select NP_060319.1:p.Gln159Ter
Search 100 bp 5'
Search 100 bp 3'