Canonical Allele Identifier: CA347655971

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1518446
• ClinVar RCV Id: RCV002043473
• dbSNP Id: rs1573977723
• MyVariant Identifiers: chr2:g.96930949G>C (hg19) ; chr2:g.96265211G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.171C>G MANE Select	ENSP00000258439.3:p.His57Gln
ENST00000258439.7:c.171C>G	ENSP00000258439.2:p.His57Gln
ENST00000432959.1:c.171C>G	ENSP00000416660.1:p.His57Gln
NM_001193304.2:c.171C>G	NP_001180233.1:p.His57Gln
NM_017849.3:c.171C>G , LRG_528t1:c.171C>G	NP_060319.1:p.His57Gln
NM_001193304.3:c.171C>G	NP_001180233.1:p.His57Gln
NM_017849.4:c.171C>G MANE Select	NP_060319.1:p.His57Gln