Canonical Allele Identifier: CA347656013
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 819465
ClinVar RCV Id: RCV001012029 RCV001216559
dbSNP Id: rs1573977765
gnomAD v3: 2-96265230-G-A
gnomAD v4: 2-96265230-G-A
MyVariant Identifiers: chr2:g.96930968G>A (hg19) chr2:g.96265230G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265230G>A , CM000664.2:g.96265230G>A GRCh38
NC_000002.11:g.96930968G>A , CM000664.1:g.96930968G>A GRCh37
NC_000002.10:g.96294695G>A NCBI36
NG_027695.1:g.5784C>T , LRG_528:g.5784C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.152C>T MANE Select ENSP00000258439.3:p.Pro51Leu
ENST00000258439.7:c.152C>T ENSP00000258439.2:p.Pro51Leu
ENST00000432959.1:c.152C>T ENSP00000416660.1:p.Pro51Leu
NM_001193304.2:c.152C>T NP_001180233.1:p.Pro51Leu
NM_017849.3:c.152C>T , LRG_528t1:c.152C>T NP_060319.1:p.Pro51Leu
NM_001193304.3:c.152C>T NP_001180233.1:p.Pro51Leu
NM_017849.4:c.152C>T MANE Select NP_060319.1:p.Pro51Leu
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