Canonical Allele Identifier: CA358677324
Gene: TMEM192 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.165100690T>C , CM000666.2:g.165100690T>C GRCh38
NC_000004.11:g.166021842T>C , CM000666.1:g.166021842T>C GRCh37
NC_000004.10:g.166241292T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001100389.2:c.377A>G MANE Select NP_001093859.1:p.Tyr126Cys
ENST00000306480.11:c.377A>G MANE Select ENSP00000305069.4:p.Tyr126Cys
NM_001100389.1:c.377A>G NP_001093859.1:p.Tyr126Cys
ENST00000306480.10:c.377A>G ENSP00000305069.4:p.Tyr126Cys
ENST00000505095.1:c.-47A>G ENSP00000424590.1:n.-47A>G
ENST00000506087.5:c.365A>G ENSP00000425335.1:p.Tyr122Cys
XM_011531717.1:c.377A>G XP_011530019.1:p.Tyr126Cys
XM_011531717.3:c.377A>G XP_011530019.1:p.Tyr126Cys
XM_011531718.1:c.377A>G XP_011530020.1:p.Tyr126Cys
XM_011531718.3:c.377A>G XP_011530020.1:p.Tyr126Cys