Canonical Allele Identifier: CA427496320
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 750017
ClinVar RCV Id: RCV001488026 RCV002400033 RCV003478583
dbSNP Id: rs1573977723
gnomAD v4: 2-96265211-G-A
MyVariant Identifiers: chr2:g.96930949G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265211G>A , CM000664.2:g.96265211G>A GRCh38
NC_000002.11:g.96930949G>A , CM000664.1:g.96930949G>A GRCh37
NC_000002.10:g.96294676G>A NCBI36
NG_027695.1:g.5803C>T , LRG_528:g.5803C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.171C>T MANE Select ENSP00000258439.3:p.His57=
ENST00000258439.7:c.171C>T ENSP00000258439.2:p.His57=
ENST00000432959.1:c.171C>T ENSP00000416660.1:p.His57=
NM_001193304.2:c.171C>T NP_001180233.1:p.His57=
NM_017849.3:c.171C>T , LRG_528t1:c.171C>T NP_060319.1:p.His57=
NM_001193304.3:c.171C>T NP_001180233.1:p.His57=
NM_017849.4:c.171C>T MANE Select NP_060319.1:p.His57=
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