Canonical Allele Identifier: CA347656089

Gene: TMEM127

Linked Data

• gnomAD v4: 2-96265269-G-A
• MyVariant Identifiers: chr2:g.96931007G>A (hg19) ; chr2:g.96265269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265269G>A , CM000664.2:g.96265269G>A	GRCh38
NC_000002.11:g.96931007G>A , CM000664.1:g.96931007G>A	GRCh37
NC_000002.10:g.96294734G>A	NCBI36
NG_027695.1:g.5745C>T , LRG_528:g.5745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.113C>T MANE Select	ENSP00000258439.3:p.Ala38Val
ENST00000258439.7:c.113C>T	ENSP00000258439.2:p.Ala38Val
ENST00000432959.1:c.113C>T	ENSP00000416660.1:p.Ala38Val
NM_001193304.2:c.113C>T	NP_001180233.1:p.Ala38Val
NM_017849.3:c.113C>T , LRG_528t1:c.113C>T	NP_060319.1:p.Ala38Val
NM_001193304.3:c.113C>T	NP_001180233.1:p.Ala38Val
NM_017849.4:c.113C>T MANE Select	NP_060319.1:p.Ala38Val