Canonical Allele Identifier: CA2336431351

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363980A= , CM000681.2:g.41363980A= GRCh38
NC_000019.9:g.41869885A= , CM000681.1:g.41869885A= GRCh37
NC_000019.8:g.46561725A= NCBI36
NG_013091.1:g.5194T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-27T= (B9D2) MANE Select ENSP00000243578.2:n.-27T=
ENST00000243578.7:c.-27T= (B9D2) ENSP00000243578.2:n.-27T=
ENST00000539627.5:c.-30+12778A= (TMEM91) ENSP00000441900.1:n.-30+12778A=
ENST00000594416.1:c.-27T= (B9D2) ENSP00000469666.1:n.-27T=
ENST00000601597.1:n.113T= (B9D2)
ENST00000604123.5:c.142+9665A= (TMEM91) ENSP00000474871.1:n.142+9665A=
ENST00000604424.1:n.350+12778A=
NM_001098825.1:c.-145A= (TMEM91) NP_001092295.1:n.-145A=
NM_030578.3:c.-27T= (B9D2) NP_085055.2:n.-27T=
XM_006723405.1:c.-27T= (B9D2) XP_006723468.1:n.-27T=
XM_011527350.1:c.-94T= (B9D2) XP_011525652.1:n.-94T=
XM_011527350.2:c.-94T= (B9D2) XP_011525652.1:n.-94T=
NM_030578.4:c.-27T= (B9D2) MANE Select NP_085055.2:n.-27T=
NM_001369864.1:c.-402A= (TMEM91) NP_001356793.1:n.-402A=
NM_001098825.2:c.-145A= (TMEM91) NP_001092295.1:n.-145A=