Canonical Allele Identifier: CA347655989
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173918
ClinVar RCV Id: RCV002598766
dbSNP Id: rs2104307647
gnomAD v4: 2-96265219-G-A
MyVariant Identifiers: chr2:g.96930957G>A (hg19) chr2:g.96265219G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265219G>A , CM000664.2:g.96265219G>A GRCh38
NC_000002.11:g.96930957G>A , CM000664.1:g.96930957G>A GRCh37
NC_000002.10:g.96294684G>A NCBI36
NG_027695.1:g.5795C>T , LRG_528:g.5795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.163C>T MANE Select ENSP00000258439.3:p.His55Tyr
ENST00000258439.7:c.163C>T ENSP00000258439.2:p.His55Tyr
ENST00000432959.1:c.163C>T ENSP00000416660.1:p.His55Tyr
NM_001193304.2:c.163C>T NP_001180233.1:p.His55Tyr
NM_017849.3:c.163C>T , LRG_528t1:c.163C>T NP_060319.1:p.His55Tyr
NM_001193304.3:c.163C>T NP_001180233.1:p.His55Tyr
NM_017849.4:c.163C>T MANE Select NP_060319.1:p.His55Tyr
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Search 100 bp 3'