Canonical Allele Identifier: CA895768585

Gene: TMEM127

Linked Data

• dbSNP Id: rs1421465861
• gnomAD v4: 2-96250959-C-T
• MyVariant Identifiers: chr2:g.96916697C>T (hg19) ; chr2:g.96250959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250959C>T , CM000664.2:g.96250959C>T	GRCh38
NC_000002.11:g.96916697C>T , CM000664.1:g.96916697C>T	GRCh37
NC_000002.10:g.96280424C>T	NCBI36
NG_027695.1:g.20055G>A , LRG_528:g.20055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2849G>A MANE Select	ENSP00000258439.3:n.*2849G>A
ENST00000258439.7:c.*2849G>A	ENSP00000258439.2:n.*2849G>A
NM_001193304.2:c.*2849G>A	NP_001180233.1:n.*2849G>A
NM_017849.3:c.*2849G>A , LRG_528t1:c.*2849G>A	NP_060319.1:n.*2849G>A
XM_017004450.1:c.*2150G>A	XP_016859939.1:n.*2150G>A
XM_017004452.1:c.*2849G>A	XP_016859941.1:n.*2849G>A
NM_001193304.3:c.*2849G>A	NP_001180233.1:n.*2849G>A
NM_017849.4:c.*2849G>A MANE Select	NP_060319.1:n.*2849G>A