Canonical Allele Identifier: CA439481158

Gene: TMEM165

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55417971T>C , CM000666.2:g.55417971T>C	GRCh38
NC_000004.11:g.56284138T>C , CM000666.1:g.56284138T>C	GRCh37
NC_000004.10:g.55978895T>C	NCBI36
NG_032881.1:g.27059T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018475.5:c.778T>C MANE Select	NP_060945.2:p.Leu260=
ENST00000381334.10:c.778T>C MANE Select	ENSP00000370736.5:p.Leu260=
NM_018475.4:c.778T>C	NP_060945.2:p.Leu260=
NR_073070.1:n.1158T>C
NR_073070.2:n.1114T>C
ENST00000381334.9:c.778T>C	ENSP00000370736.5:p.Leu260=
ENST00000506103.2:c.53T>C
ENST00000506198.5:c.208-6567T>C	ENSP00000425449.1:n.208-6567T>C
ENST00000508404.5:c.*650T>C	ENSP00000422639.1:n.*650T>C
ENST00000508561.5:n.372-77T>C
ENST00000509575.1:n.281T>C
ENST00000514904.5:n.1232T>C
ENST00000608091.1:c.288T>C
XM_011534394.1:c.778T>C	XP_011532696.1:p.Leu260=
XM_011534394.3:c.778T>C	XP_011532696.1:p.Leu260=
XM_017008412.1:c.589T>C	XP_016863901.1:p.Leu197=
XR_001741287.2:n.1315T>C