Canonical Allele Identifier: CA10616474
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 337466
ClinVar RCV Id: RCV000343247
dbSNP Id: rs886056438

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251563T>C , CM000664.2:g.96251563T>C GRCh38
NC_000002.11:g.96917301T>C , CM000664.1:g.96917301T>C GRCh37
NC_000002.10:g.96281028T>C NCBI36
NG_027695.1:g.19451A>G , LRG_528:g.19451A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*2245A>G MANE Select ENSP00000258439.3:p.=
ENST00000258439.7:c.*2245A>G ENSP00000258439.2:p.=
NM_001193304.2:c.*2245A>G NP_001180233.1:p.=
NM_017849.3:c.*2245A>G , LRG_528t1:c.*2245A>G NP_060319.1:p.=
XM_017004450.1:c.*1546A>G XP_016859939.1:p.=
XM_017004452.1:c.*2245A>G XP_016859941.1:p.=
NM_001193304.3:c.*2245A>G NP_001180233.1:p.=
NM_017849.4:c.*2245A>G MANE Select NP_060319.1:p.=