Canonical Allele Identifier: CA2585300376

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364037G>A , CM000681.2:g.41364037G>A GRCh38
NC_000019.9:g.41869942G>A , CM000681.1:g.41869942G>A GRCh37
NC_000019.8:g.46561782G>A NCBI36
NG_013091.1:g.5137C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-84C>T (B9D2) MANE Select ENSP00000243578.2:n.-84C>T
ENST00000243578.7:c.-84C>T (B9D2) ENSP00000243578.2:n.-84C>T
ENST00000539627.5:c.-30+12835G>A (TMEM91) ENSP00000441900.1:n.-30+12835G>A
ENST00000594416.1:c.-84C>T (B9D2) ENSP00000469666.1:n.-84C>T
ENST00000601597.1:n.56C>T (B9D2)
ENST00000604123.5:c.142+9722G>A (TMEM91) ENSP00000474871.1:n.142+9722G>A
ENST00000604424.1:n.350+12835G>A
NM_001098825.1:c.-88G>A (TMEM91) NP_001092295.1:n.-88G>A
NM_030578.3:c.-84C>T (B9D2) NP_085055.2:n.-84C>T
XM_006723405.1:c.-84C>T (B9D2) XP_006723468.1:n.-84C>T
XM_011527350.1:c.-151C>T (B9D2) XP_011525652.1:n.-151C>T
XM_011527350.2:c.-151C>T (B9D2) XP_011525652.1:n.-151C>T
NM_030578.4:c.-84C>T (B9D2) MANE Select NP_085055.2:n.-84C>T
NM_001369864.1:c.-345G>A (TMEM91) NP_001356793.1:n.-345G>A
NM_001098825.2:c.-88G>A (TMEM91) NP_001092295.1:n.-88G>A