Canonical Allele Identifier: CA427496409
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1553437743
gnomAD v3: 2-96265301-C-G
gnomAD v4: 2-96265301-C-G
MyVariant Identifiers: chr2:g.96931039C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265301C>G , CM000664.2:g.96265301C>G GRCh38
NC_000002.11:g.96931039C>G , CM000664.1:g.96931039C>G GRCh37
NC_000002.10:g.96294766C>G NCBI36
NG_027695.1:g.5713G>C , LRG_528:g.5713G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.81G>C MANE Select ENSP00000258439.3:p.Pro27=
ENST00000258439.7:c.81G>C ENSP00000258439.2:p.Pro27=
ENST00000432959.1:c.81G>C ENSP00000416660.1:p.Pro27=
NM_001193304.2:c.81G>C NP_001180233.1:p.Pro27=
NM_017849.3:c.81G>C , LRG_528t1:c.81G>C NP_060319.1:p.Pro27=
NM_001193304.3:c.81G>C NP_001180233.1:p.Pro27=
NM_017849.4:c.81G>C MANE Select NP_060319.1:p.Pro27=