Canonical Allele Identifier: CA1777359
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs121908824
gnomAD v2: 2-96920700-G-C
gnomAD v4: 2-96254962-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254962G>C , CM000664.2:g.96254962G>C GRCh38
NC_000002.11:g.96920700G>C , CM000664.1:g.96920700G>C GRCh37
NC_000002.10:g.96284427G>C NCBI36
NG_027695.1:g.16052C>G , LRG_528:g.16052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.280C>G MANE Select ENSP00000258439.3:p.Arg94Gly
ENST00000258439.7:c.280C>G ENSP00000258439.2:p.Arg94Gly
ENST00000432959.1:c.280C>G ENSP00000416660.1:p.Arg94Gly
ENST00000435268.1:c.28C>G ENSP00000411810.1:p.Arg10Gly
NM_001193304.2:c.280C>G NP_001180233.1:p.Arg94Gly
NM_017849.3:c.280C>G , LRG_528t1:c.280C>G NP_060319.1:p.Arg94Gly
XM_017004450.1:c.-639C>G XP_016859939.1:n.-639C>G
XM_017004452.1:c.28C>G XP_016859941.1:p.Arg10Gly
NM_001193304.3:c.280C>G NP_001180233.1:p.Arg94Gly
NM_017849.4:c.280C>G MANE Select NP_060319.1:p.Arg94Gly