Canonical Allele Identifier: CA895769046

Gene: TMEM127

Linked Data

• dbSNP Id: rs1451576038
• gnomAD v4: 2-96251854-A-G
• MyVariant Identifiers: chr2:g.96917592A>G (hg19) ; chr2:g.96251854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251854A>G , CM000664.2:g.96251854A>G	GRCh38
NC_000002.11:g.96917592A>G , CM000664.1:g.96917592A>G	GRCh37
NC_000002.10:g.96281319A>G	NCBI36
NG_027695.1:g.19160T>C , LRG_528:g.19160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*1954T>C MANE Select	ENSP00000258439.3:n.*1954T>C
ENST00000258439.7:c.*1954T>C	ENSP00000258439.2:n.*1954T>C
ENST00000432959.1:c.*1954T>C	ENSP00000416660.1:n.*1954T>C
NM_001193304.2:c.*1954T>C	NP_001180233.1:n.*1954T>C
NM_017849.3:c.*1954T>C , LRG_528t1:c.*1954T>C	NP_060319.1:n.*1954T>C
XM_017004450.1:c.*1255T>C	XP_016859939.1:n.*1255T>C
XM_017004452.1:c.*1954T>C	XP_016859941.1:n.*1954T>C
NM_001193304.3:c.*1954T>C	NP_001180233.1:n.*1954T>C
NM_017849.4:c.*1954T>C MANE Select	NP_060319.1:n.*1954T>C