Canonical Allele Identifier: CA2336431346

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363973G= , CM000681.2:g.41363973G= GRCh38
NC_000019.9:g.41869878G= , CM000681.1:g.41869878G= GRCh37
NC_000019.8:g.46561718G= NCBI36
NG_013091.1:g.5201C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-20C= (B9D2) MANE Select ENSP00000243578.2:n.-20C=
ENST00000243578.7:c.-20C= (B9D2) ENSP00000243578.2:n.-20C=
ENST00000539627.5:c.-30+12771G= (TMEM91) ENSP00000441900.1:n.-30+12771G=
ENST00000594416.1:c.-20C= (B9D2) ENSP00000469666.1:n.-20C=
ENST00000601597.1:n.120C= (B9D2)
ENST00000604123.5:c.142+9658G= (TMEM91) ENSP00000474871.1:n.142+9658G=
ENST00000604424.1:n.350+12771G=
NM_001098825.1:c.-152G= (TMEM91) NP_001092295.1:n.-152G=
NM_030578.3:c.-20C= (B9D2) NP_085055.2:n.-20C=
XM_006723405.1:c.-20C= (B9D2) XP_006723468.1:n.-20C=
XM_011527350.1:c.-87C= (B9D2) XP_011525652.1:n.-87C=
XM_011527350.2:c.-87C= (B9D2) XP_011525652.1:n.-87C=
NM_030578.4:c.-20C= (B9D2) MANE Select NP_085055.2:n.-20C=
NM_001369864.1:c.-409G= (TMEM91) NP_001356793.1:n.-409G=
NM_001098825.2:c.-152G= (TMEM91) NP_001092295.1:n.-152G=