Canonical Allele Identifier: CA10614625
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 337467
ClinVar RCV Id: RCV000396432
dbSNP Id: rs555968113
gnomAD v3: 2-96251637-G-A
gnomAD v4: 2-96251637-G-A
MyVariant Identifiers: chr2:g.96917375G>A (hg19) chr2:g.96251637G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251637G>A , CM000664.2:g.96251637G>A GRCh38
NC_000002.11:g.96917375G>A , CM000664.1:g.96917375G>A GRCh37
NC_000002.10:g.96281102G>A NCBI36
NG_027695.1:g.19377C>T , LRG_528:g.19377C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*2171C>T MANE Select ENSP00000258439.3:n.*2171C>T
ENST00000258439.7:c.*2171C>T ENSP00000258439.2:n.*2171C>T
NM_001193304.2:c.*2171C>T NP_001180233.1:n.*2171C>T
NM_017849.3:c.*2171C>T , LRG_528t1:c.*2171C>T NP_060319.1:n.*2171C>T
XM_017004450.1:c.*1472C>T XP_016859939.1:n.*1472C>T
XM_017004452.1:c.*2171C>T XP_016859941.1:n.*2171C>T
NM_001193304.3:c.*2171C>T NP_001180233.1:n.*2171C>T
NM_017849.4:c.*2171C>T MANE Select NP_060319.1:n.*2171C>T
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