Canonical Allele Identifier: CA52409809
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 898772
ClinVar RCV Id: RCV001142854
dbSNP Id: rs915390483
gnomAD v3: 2-96250933-T-C
gnomAD v4: 2-96250933-T-C
MyVariant Identifiers: chr2:g.96916671T>C (hg19) chr2:g.96250933T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96250933T>C , CM000664.2:g.96250933T>C GRCh38
NC_000002.11:g.96916671T>C , CM000664.1:g.96916671T>C GRCh37
NC_000002.10:g.96280398T>C NCBI36
NG_027695.1:g.20081A>G , LRG_528:g.20081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2875A>G MANE Select ENSP00000258439.3:n.*2875A>G
ENST00000258439.7:c.*2875A>G ENSP00000258439.2:n.*2875A>G
NM_001193304.2:c.*2875A>G NP_001180233.1:n.*2875A>G
NM_017849.3:c.*2875A>G , LRG_528t1:c.*2875A>G NP_060319.1:n.*2875A>G
XM_017004450.1:c.*2176A>G XP_016859939.1:n.*2176A>G
XM_017004452.1:c.*2875A>G XP_016859941.1:n.*2875A>G
NM_001193304.3:c.*2875A>G NP_001180233.1:n.*2875A>G
NM_017849.4:c.*2875A>G MANE Select NP_060319.1:n.*2875A>G
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