Canonical Allele Identifier: CA1033957323
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v3: 2-96251802-T-G
gnomAD v4: 2-96251802-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251802T>G , CM000664.2:g.96251802T>G GRCh38
NC_000002.11:g.96917540T>G , CM000664.1:g.96917540T>G GRCh37
NC_000002.10:g.96281267T>G NCBI36
NG_027695.1:g.19212A>C , LRG_528:g.19212A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2006A>C MANE Select ENSP00000258439.3:n.*2006A>C
ENST00000258439.7:c.*2006A>C ENSP00000258439.2:n.*2006A>C
ENST00000432959.1:c.*2006A>C ENSP00000416660.1:n.*2006A>C
NM_001193304.2:c.*2006A>C NP_001180233.1:n.*2006A>C
NM_017849.3:c.*2006A>C , LRG_528t1:c.*2006A>C NP_060319.1:n.*2006A>C
XM_017004450.1:c.*1307A>C XP_016859939.1:n.*1307A>C
XM_017004452.1:c.*2006A>C XP_016859941.1:n.*2006A>C
NM_001193304.3:c.*2006A>C NP_001180233.1:n.*2006A>C
NM_017849.4:c.*2006A>C MANE Select NP_060319.1:n.*2006A>C
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