Canonical Allele Identifier: CA347656115
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 463833
ClinVar RCV Id: RCV000536078 RCV002438352
dbSNP Id: rs1553437740
MyVariant Identifiers: chr2:g.96931020C>T (hg19) chr2:g.96265282C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265282C>T , CM000664.2:g.96265282C>T GRCh38
NC_000002.11:g.96931020C>T , CM000664.1:g.96931020C>T GRCh37
NC_000002.10:g.96294747C>T NCBI36
NG_027695.1:g.5732G>A , LRG_528:g.5732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.100G>A MANE Select ENSP00000258439.3:p.Ala34Thr
ENST00000258439.7:c.100G>A ENSP00000258439.2:p.Ala34Thr
ENST00000432959.1:c.100G>A ENSP00000416660.1:p.Ala34Thr
NM_001193304.2:c.100G>A NP_001180233.1:p.Ala34Thr
NM_017849.3:c.100G>A , LRG_528t1:c.100G>A NP_060319.1:p.Ala34Thr
NM_001193304.3:c.100G>A NP_001180233.1:p.Ala34Thr
NM_017849.4:c.100G>A MANE Select NP_060319.1:p.Ala34Thr
Search 100 bp 5'
Search 100 bp 3'