Canonical Allele Identifier: CA356902899
Community Standard Title: NM_018475.5(TMEM165):c.612T>A (p.Phe204Leu)
Gene: TMEM165 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55417805T>A , CM000666.2:g.55417805T>A GRCh38
NC_000004.11:g.56283972T>A , CM000666.1:g.56283972T>A GRCh37
NC_000004.10:g.55978729T>A NCBI36
NG_032881.1:g.26893T>A

Transcript Alleles

HGVS Amino-acid Change
NM_018475.5:c.612T>A MANE Select NP_060945.2:p.Phe204Leu
ENST00000381334.10:c.612T>A MANE Select ENSP00000370736.5:p.Phe204Leu
NM_018475.4:c.612T>A NP_060945.2:p.Phe204Leu
NR_073070.1:n.992T>A
NR_073070.2:n.948T>A
ENST00000381334.9:c.612T>A ENSP00000370736.5:p.Phe204Leu
ENST00000506198.5:c.208-6733T>A ENSP00000425449.1:n.208-6733T>A
ENST00000508404.5:c.*484T>A ENSP00000422639.1:n.*484T>A
ENST00000508561.5:n.328T>A
ENST00000509575.1:n.115T>A
ENST00000514904.5:n.1066T>A
ENST00000608091.1:c.122T>A
XM_011534394.1:c.612T>A XP_011532696.1:p.Phe204Leu
XM_011534394.3:c.612T>A XP_011532696.1:p.Phe204Leu
XM_017008412.1:c.423T>A XP_016863901.1:p.Phe141Leu
XR_001741287.2:n.1149T>A