Canonical Allele Identifier: CA356903444
Community Standard Title: NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)
Gene: TMEM165 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55417940G>A , CM000666.2:g.55417940G>A GRCh38
NC_000004.11:g.56284107G>A , CM000666.1:g.56284107G>A GRCh37
NC_000004.10:g.55978864G>A NCBI36
NG_032881.1:g.27028G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018475.5:c.747G>A MANE Select NP_060945.2:p.Trp249Ter
ENST00000381334.10:c.747G>A MANE Select ENSP00000370736.5:p.Trp249Ter
NM_018475.4:c.747G>A NP_060945.2:p.Trp249Ter
NR_073070.1:n.1127G>A
NR_073070.2:n.1083G>A
ENST00000381334.9:c.747G>A ENSP00000370736.5:p.Trp249Ter
ENST00000506103.2:c.22G>A
ENST00000506198.5:c.208-6598G>A ENSP00000425449.1:n.208-6598G>A
ENST00000508404.5:c.*619G>A ENSP00000422639.1:n.*619G>A
ENST00000508561.5:n.371+92G>A
ENST00000509575.1:n.250G>A
ENST00000514904.5:n.1201G>A
ENST00000608091.1:c.257G>A
XM_011534394.1:c.747G>A XP_011532696.1:p.Trp249Ter
XM_011534394.3:c.747G>A XP_011532696.1:p.Trp249Ter
XM_017008412.1:c.558G>A XP_016863901.1:p.Trp186Ter
XR_001741287.2:n.1284G>A