Canonical Allele Identifier: CA347656032
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 532506
ClinVar RCV Id: RCV000639334 RCV001011587
dbSNP Id: rs1219876266
gnomAD v2: 2-96930977-A-G
gnomAD v3: 2-96265239-A-G
gnomAD v4: 2-96265239-A-G
MyVariant Identifiers: chr2:g.96930977A>G (hg19) chr2:g.96265239A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265239A>G , CM000664.2:g.96265239A>G GRCh38
NC_000002.11:g.96930977A>G , CM000664.1:g.96930977A>G GRCh37
NC_000002.10:g.96294704A>G NCBI36
NG_027695.1:g.5775T>C , LRG_528:g.5775T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.143T>C MANE Select ENSP00000258439.3:p.Leu48Pro
ENST00000258439.7:c.143T>C ENSP00000258439.2:p.Leu48Pro
ENST00000432959.1:c.143T>C ENSP00000416660.1:p.Leu48Pro
NM_001193304.2:c.143T>C NP_001180233.1:p.Leu48Pro
NM_017849.3:c.143T>C , LRG_528t1:c.143T>C NP_060319.1:p.Leu48Pro
NM_001193304.3:c.143T>C NP_001180233.1:p.Leu48Pro
NM_017849.4:c.143T>C MANE Select NP_060319.1:p.Leu48Pro
Search 100 bp 5'
Search 100 bp 3'