Canonical Allele Identifier: CA52410520

Gene: TMEM127

Linked Data

• dbSNP Id: rs934952600
• gnomAD v3: 2-96251697-T-G
• gnomAD v4: 2-96251697-T-G
• MyVariant Identifiers: chr2:g.96917435T>G (hg19) ; chr2:g.96251697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251697T>G , CM000664.2:g.96251697T>G	GRCh38
NC_000002.11:g.96917435T>G , CM000664.1:g.96917435T>G	GRCh37
NC_000002.10:g.96281162T>G	NCBI36
NG_027695.1:g.19317A>C , LRG_528:g.19317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2111A>C MANE Select	ENSP00000258439.3:n.*2111A>C
ENST00000258439.7:c.*2111A>C	ENSP00000258439.2:n.*2111A>C
ENST00000432959.1:c.*2111A>C	ENSP00000416660.1:n.*2111A>C
NM_001193304.2:c.*2111A>C	NP_001180233.1:n.*2111A>C
NM_017849.3:c.*2111A>C , LRG_528t1:c.*2111A>C	NP_060319.1:n.*2111A>C
XM_017004450.1:c.*1412A>C	XP_016859939.1:n.*1412A>C
XM_017004452.1:c.*2111A>C	XP_016859941.1:n.*2111A>C
NM_001193304.3:c.*2111A>C	NP_001180233.1:n.*2111A>C
NM_017849.4:c.*2111A>C MANE Select	NP_060319.1:n.*2111A>C