Canonical Allele Identifier: CA1033957126
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1684081515
gnomAD v3: 2-96251262-A-G
gnomAD v4: 2-96251262-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251262A>G , CM000664.2:g.96251262A>G GRCh38
NC_000002.11:g.96917000A>G , CM000664.1:g.96917000A>G GRCh37
NC_000002.10:g.96280727A>G NCBI36
NG_027695.1:g.19752T>C , LRG_528:g.19752T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2546T>C MANE Select ENSP00000258439.3:n.*2546T>C
ENST00000258439.7:c.*2546T>C ENSP00000258439.2:n.*2546T>C
NM_001193304.2:c.*2546T>C NP_001180233.1:n.*2546T>C
NM_017849.3:c.*2546T>C , LRG_528t1:c.*2546T>C NP_060319.1:n.*2546T>C
XM_017004450.1:c.*1847T>C XP_016859939.1:n.*1847T>C
XM_017004452.1:c.*2546T>C XP_016859941.1:n.*2546T>C
NM_001193304.3:c.*2546T>C NP_001180233.1:n.*2546T>C
NM_017849.4:c.*2546T>C MANE Select NP_060319.1:n.*2546T>C
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