Canonical Allele Identifier: CA260080
Gene: TMEM165 HGNC NCBI

Linked Data

ClinVar Variation Id: 35520
dbSNP Id: rs387907222
gnomAD v2: 4-56277949-C-T
gnomAD v3: 4-55411782-C-T
gnomAD v4: 4-55411782-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55411782C>T , CM000666.2:g.55411782C>T GRCh38
NC_000004.11:g.56277949C>T , CM000666.1:g.56277949C>T GRCh37
NC_000004.10:g.55972706C>T NCBI36
NG_032881.1:g.20870C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381334.10:c.376C>T MANE Select ENSP00000370736.5:p.Arg126Cys
ENST00000381334.9:c.376C>T ENSP00000370736.5:p.Arg126Cys
ENST00000502797.1:n.265C>T
ENST00000506198.5:c.208-12756C>T ENSP00000425449.1:n.208-12756C>T
ENST00000508404.5:c.*248C>T ENSP00000422639.1:n.*248C>T
ENST00000511710.1:n.500C>T
NM_018475.4:c.376C>T NP_060945.2:p.Arg126Cys
NR_073070.1:n.756C>T
XM_011534394.1:c.376C>T XP_011532696.1:p.Arg126Cys
XM_011534394.3:c.376C>T XP_011532696.1:p.Arg126Cys
XM_017008412.1:c.187C>T XP_016863901.1:p.Arg63Cys
XR_001741287.2:n.913C>T
NM_018475.5:c.376C>T MANE Select NP_060945.2:p.Arg126Cys
NR_073070.2:n.712C>T