Canonical Allele Identifier: CA347653427

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2415496
• ClinVar RCV Id: RCV003110915 ; RCV003377923
• MyVariant Identifiers: chr2:g.96920648A>G (hg19) ; chr2:g.96254910A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254910A>G , CM000664.2:g.96254910A>G	GRCh38
NC_000002.11:g.96920648A>G , CM000664.1:g.96920648A>G	GRCh37
NC_000002.10:g.96284375A>G	NCBI36
NG_027695.1:g.16104T>C , LRG_528:g.16104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.332T>C MANE Select	ENSP00000258439.3:p.Phe111Ser
ENST00000258439.7:c.332T>C	ENSP00000258439.2:p.Phe111Ser
ENST00000432959.1:c.332T>C	ENSP00000416660.1:p.Phe111Ser
ENST00000435268.1:c.80T>C	ENSP00000411810.1:p.Phe27Ser
NM_001193304.2:c.332T>C	NP_001180233.1:p.Phe111Ser
NM_017849.3:c.332T>C , LRG_528t1:c.332T>C	NP_060319.1:p.Phe111Ser
XM_017004450.1:c.-587T>C	XP_016859939.1:n.-587T>C
XM_017004452.1:c.80T>C	XP_016859941.1:p.Phe27Ser
NM_001193304.3:c.332T>C	NP_001180233.1:p.Phe111Ser
NM_017849.4:c.332T>C MANE Select	NP_060319.1:p.Phe111Ser