Canonical Allele Identifier: CA356958963
Community Standard Title: NM_018475.5(TMEM165):c.185G>T (p.Gly62Val)
Gene: TMEM165 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55396374G>T , CM000666.2:g.55396374G>T GRCh38
NC_000004.11:g.56262541G>T , CM000666.1:g.56262541G>T GRCh37
NC_000004.10:g.55957298G>T NCBI36
NG_032881.1:g.5462G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018475.5:c.185G>T MANE Select NP_060945.2:p.Gly62Val
ENST00000381334.10:c.185G>T MANE Select ENSP00000370736.5:p.Gly62Val
NM_018475.4:c.185G>T NP_060945.2:p.Gly62Val
NR_073070.1:n.462G>T
NR_073070.2:n.418G>T
ENST00000381334.9:c.185G>T ENSP00000370736.5:p.Gly62Val
ENST00000506198.5:c.185G>T ENSP00000425449.1:p.Gly62Val
ENST00000508404.5:c.185G>T ENSP00000422639.1:p.Gly62Val
ENST00000514070.1:n.124G>T
XM_011534394.1:c.185G>T XP_011532696.1:p.Gly62Val
XM_011534394.3:c.185G>T XP_011532696.1:p.Gly62Val
XM_017008412.1:c.-261G>T XP_016863901.1:n.-261G>T
XR_001741287.2:n.722G>T