Canonical Allele Identifier: CA347656117
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96265284-G-T
MyVariant Identifiers: chr2:g.96931022G>T (hg19) chr2:g.96265284G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265284G>T , CM000664.2:g.96265284G>T GRCh38
NC_000002.11:g.96931022G>T , CM000664.1:g.96931022G>T GRCh37
NC_000002.10:g.96294749G>T NCBI36
NG_027695.1:g.5730C>A , LRG_528:g.5730C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.98C>A MANE Select ENSP00000258439.3:p.Ser33Ter
ENST00000258439.7:c.98C>A ENSP00000258439.2:p.Ser33Ter
ENST00000432959.1:c.98C>A ENSP00000416660.1:p.Ser33Ter
NM_001193304.2:c.98C>A NP_001180233.1:p.Ser33Ter
NM_017849.3:c.98C>A , LRG_528t1:c.98C>A NP_060319.1:p.Ser33Ter
NM_001193304.3:c.98C>A NP_001180233.1:p.Ser33Ter
NM_017849.4:c.98C>A MANE Select NP_060319.1:p.Ser33Ter
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