Canonical Allele Identifier: CA895769114

Gene: TMEM127

Linked Data

• dbSNP Id: rs1342441525
• gnomAD v4: 2-96251961-C-A
• MyVariant Identifiers: chr2:g.96917699C>A (hg19) ; chr2:g.96251961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251961C>A , CM000664.2:g.96251961C>A	GRCh38
NC_000002.11:g.96917699C>A , CM000664.1:g.96917699C>A	GRCh37
NC_000002.10:g.96281426C>A	NCBI36
NG_027695.1:g.19053G>T , LRG_528:g.19053G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*1847G>T MANE Select	ENSP00000258439.3:n.*1847G>T
ENST00000258439.7:c.*1847G>T	ENSP00000258439.2:n.*1847G>T
ENST00000432959.1:c.*1847G>T	ENSP00000416660.1:n.*1847G>T
NM_001193304.2:c.*1847G>T	NP_001180233.1:n.*1847G>T
NM_017849.3:c.*1847G>T , LRG_528t1:c.*1847G>T	NP_060319.1:n.*1847G>T
XM_017004450.1:c.*1148G>T	XP_016859939.1:n.*1148G>T
XM_017004452.1:c.*1847G>T	XP_016859941.1:n.*1847G>T
NM_001193304.3:c.*1847G>T	NP_001180233.1:n.*1847G>T
NM_017849.4:c.*1847G>T MANE Select	NP_060319.1:n.*1847G>T