Canonical Allele Identifier: CA3128979
Gene: TMEM192 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.165100696C>T , CM000666.2:g.165100696C>T GRCh38
NC_000004.11:g.166021848C>T , CM000666.1:g.166021848C>T GRCh37
NC_000004.10:g.166241298C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306480.11:c.371G>A MANE Select ENSP00000305069.4:p.Arg124Gln
ENST00000306480.10:c.371G>A ENSP00000305069.4:p.Arg124Gln
ENST00000505095.1:c.-53G>A ENSP00000424590.1:n.-53G>A
ENST00000506087.5:c.359G>A ENSP00000425335.1:p.Arg120Gln
NM_001100389.1:c.371G>A NP_001093859.1:p.Arg124Gln
XM_011531717.1:c.371G>A XP_011530019.1:p.Arg124Gln
XM_011531718.1:c.371G>A XP_011530020.1:p.Arg124Gln
XM_011531717.3:c.371G>A XP_011530019.1:p.Arg124Gln
XM_011531718.3:c.371G>A XP_011530020.1:p.Arg124Gln
NM_001100389.2:c.371G>A MANE Select NP_001093859.1:p.Arg124Gln