Canonical Allele Identifier: CA10224924
Community Standard Title: NM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His)
Gene: TRIOBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37759188G>A , CM000684.2:g.37759188G>A GRCh38
NC_000022.10:g.38155195G>A , CM000684.1:g.38155195G>A GRCh37
NC_000022.9:g.36485141G>A NCBI36
NG_012857.1:g.67201G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001039141.3:c.6248G>A MANE Select NP_001034230.1:p.Arg2083His
ENST00000644935.1:c.6248G>A MANE Select ENSP00000496394.1:p.Arg2083His
NM_001039141.2:c.6248G>A NP_001034230.1:p.Arg2083His
NM_007032.5:c.1109G>A NP_008963.3:p.Arg370His
NM_138632.2:c.1109G>A NP_619538.2:p.Arg370His
ENST00000344404.10:c.*5731G>A ENSP00000340312.6:n.*5731G>A
ENST00000403663.6:c.1109G>A ENSP00000386026.2:p.Arg370His
ENST00000406386.7:c.6248G>A ENSP00000384312.3:p.Arg2083His
ENST00000407319.6:c.1109G>A ENSP00000383913.2:p.Arg370His
ENST00000407319.7:c.1109G>A ENSP00000383913.2:p.Arg370His