Canonical Allele Identifier: CA1033957131
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1684082427
gnomAD v3: 2-96251297-A-G
gnomAD v4: 2-96251297-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251297A>G , CM000664.2:g.96251297A>G GRCh38
NC_000002.11:g.96917035A>G , CM000664.1:g.96917035A>G GRCh37
NC_000002.10:g.96280762A>G NCBI36
NG_027695.1:g.19717T>C , LRG_528:g.19717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2511T>C MANE Select ENSP00000258439.3:n.*2511T>C
ENST00000258439.7:c.*2511T>C ENSP00000258439.2:n.*2511T>C
NM_001193304.2:c.*2511T>C NP_001180233.1:n.*2511T>C
NM_017849.3:c.*2511T>C , LRG_528t1:c.*2511T>C NP_060319.1:n.*2511T>C
XM_017004450.1:c.*1812T>C XP_016859939.1:n.*1812T>C
XM_017004452.1:c.*2511T>C XP_016859941.1:n.*2511T>C
NM_001193304.3:c.*2511T>C NP_001180233.1:n.*2511T>C
NM_017849.4:c.*2511T>C MANE Select NP_060319.1:n.*2511T>C
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