Canonical Allele Identifier: CA439480994

Gene: TMEM165

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55417916T>C , CM000666.2:g.55417916T>C	GRCh38
NC_000004.11:g.56284083T>C , CM000666.1:g.56284083T>C	GRCh37
NC_000004.10:g.55978840T>C	NCBI36
NG_032881.1:g.27004T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018475.5:c.723T>C MANE Select	NP_060945.2:p.Leu241=
ENST00000381334.10:c.723T>C MANE Select	ENSP00000370736.5:p.Leu241=
NM_018475.4:c.723T>C	NP_060945.2:p.Leu241=
NR_073070.1:n.1103T>C
NR_073070.2:n.1059T>C
ENST00000381334.9:c.723T>C	ENSP00000370736.5:p.Leu241=
ENST00000506198.5:c.208-6622T>C	ENSP00000425449.1:n.208-6622T>C
ENST00000508404.5:c.*595T>C	ENSP00000422639.1:n.*595T>C
ENST00000508561.5:n.371+68T>C
ENST00000509575.1:n.226T>C
ENST00000514904.5:n.1177T>C
ENST00000608091.1:c.233T>C
XM_011534394.1:c.723T>C	XP_011532696.1:p.Leu241=
XM_011534394.3:c.723T>C	XP_011532696.1:p.Leu241=
XM_017008412.1:c.534T>C	XP_016863901.1:p.Leu178=
XR_001741287.2:n.1260T>C