Canonical Allele Identifier: CA356958876
Community Standard Title: NM_018475.5(TMEM165):c.143C>T (p.Ala48Val)
Gene: TMEM165 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55396332C>T , CM000666.2:g.55396332C>T GRCh38
NC_000004.11:g.56262499C>T , CM000666.1:g.56262499C>T GRCh37
NC_000004.10:g.55957256C>T NCBI36
NG_032881.1:g.5420C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018475.5:c.143C>T MANE Select NP_060945.2:p.Ala48Val
ENST00000381334.10:c.143C>T MANE Select ENSP00000370736.5:p.Ala48Val
NM_018475.4:c.143C>T NP_060945.2:p.Ala48Val
NR_073070.1:n.420C>T
NR_073070.2:n.376C>T
ENST00000381334.9:c.143C>T ENSP00000370736.5:p.Ala48Val
ENST00000506198.5:c.143C>T ENSP00000425449.1:p.Ala48Val
ENST00000508404.5:c.143C>T ENSP00000422639.1:p.Ala48Val
ENST00000514070.1:n.82C>T
XM_011534394.1:c.143C>T XP_011532696.1:p.Ala48Val
XM_011534394.3:c.143C>T XP_011532696.1:p.Ala48Val
XM_017008412.1:c.-303C>T XP_016863901.1:n.-303C>T
XR_001741287.2:n.680C>T