Canonical Allele Identifier: CA10616488
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 337488
ClinVar RCV Id: RCV000298773
dbSNP Id: rs748572058
gnomAD v2: 2-96918368-T-C
gnomAD v3: 2-96252630-T-C
gnomAD v4: 2-96252630-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96252630T>C , CM000664.2:g.96252630T>C GRCh38
NC_000002.11:g.96918368T>C , CM000664.1:g.96918368T>C GRCh37
NC_000002.10:g.96282095T>C NCBI36
NG_027695.1:g.18384A>G , LRG_528:g.18384A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*1178A>G MANE Select ENSP00000258439.3:n.*1178A>G
ENST00000258439.7:c.*1178A>G ENSP00000258439.2:n.*1178A>G
ENST00000432959.1:c.*1178A>G ENSP00000416660.1:n.*1178A>G
NM_001193304.2:c.*1178A>G NP_001180233.1:n.*1178A>G
NM_017849.3:c.*1178A>G , LRG_528t1:c.*1178A>G NP_060319.1:n.*1178A>G
XM_017004450.1:c.*479A>G XP_016859939.1:n.*479A>G
XM_017004452.1:c.*1178A>G XP_016859941.1:n.*1178A>G
NM_001193304.3:c.*1178A>G NP_001180233.1:n.*1178A>G
NM_017849.4:c.*1178A>G MANE Select NP_060319.1:n.*1178A>G