Canonical Allele Identifier: CA347656057

Gene: TMEM127

Linked Data

• dbSNP Id: rs754493061
• gnomAD v2: 2-96930990-G-T
• gnomAD v4: 2-96265252-G-T
• MyVariant Identifiers: chr2:g.96930990G>T (hg19) ; chr2:g.96265252G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265252G>T , CM000664.2:g.96265252G>T	GRCh38
NC_000002.11:g.96930990G>T , CM000664.1:g.96930990G>T	GRCh37
NC_000002.10:g.96294717G>T	NCBI36
NG_027695.1:g.5762C>A , LRG_528:g.5762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.130C>A MANE Select	ENSP00000258439.3:p.Leu44Met
ENST00000258439.7:c.130C>A	ENSP00000258439.2:p.Leu44Met
ENST00000432959.1:c.130C>A	ENSP00000416660.1:p.Leu44Met
NM_001193304.2:c.130C>A	NP_001180233.1:p.Leu44Met
NM_017849.3:c.130C>A , LRG_528t1:c.130C>A	NP_060319.1:p.Leu44Met
NM_001193304.3:c.130C>A	NP_001180233.1:p.Leu44Met
NM_017849.4:c.130C>A MANE Select	NP_060319.1:p.Leu44Met