Canonical Allele Identifier: CA356902894
Community Standard Title: NM_018475.5(TMEM165):c.610T>C (p.Phe204Leu)
Gene: TMEM165 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55417803T>C , CM000666.2:g.55417803T>C GRCh38
NC_000004.11:g.56283970T>C , CM000666.1:g.56283970T>C GRCh37
NC_000004.10:g.55978727T>C NCBI36
NG_032881.1:g.26891T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018475.5:c.610T>C MANE Select NP_060945.2:p.Phe204Leu
ENST00000381334.10:c.610T>C MANE Select ENSP00000370736.5:p.Phe204Leu
NM_018475.4:c.610T>C NP_060945.2:p.Phe204Leu
NR_073070.1:n.990T>C
NR_073070.2:n.946T>C
ENST00000381334.9:c.610T>C ENSP00000370736.5:p.Phe204Leu
ENST00000506198.5:c.208-6735T>C ENSP00000425449.1:n.208-6735T>C
ENST00000508404.5:c.*482T>C ENSP00000422639.1:n.*482T>C
ENST00000508561.5:n.326T>C
ENST00000509575.1:n.113T>C
ENST00000514904.5:n.1064T>C
ENST00000608091.1:c.120T>C
XM_011534394.1:c.610T>C XP_011532696.1:p.Phe204Leu
XM_011534394.3:c.610T>C XP_011532696.1:p.Phe204Leu
XM_017008412.1:c.421T>C XP_016863901.1:p.Phe141Leu
XR_001741287.2:n.1147T>C