Canonical Allele Identifier: CA2336430988

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363384C= , CM000681.2:g.41363384C= GRCh38
NC_000019.9:g.41869289C= , CM000681.1:g.41869289C= GRCh37
NC_000019.8:g.46561129C= NCBI36
NG_013091.1:g.5790G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.88+48G= (B9D2) MANE Select ENSP00000243578.2:n.88+48G=
ENST00000675972.1:c.88+48G= (B9D2) ENSP00000501911.1:n.88+48G=
ENST00000243578.7:c.88+48G= (B9D2) ENSP00000243578.2:n.88+48G=
ENST00000539627.5:c.-30+12182C= (TMEM91) ENSP00000441900.1:n.-30+12182C=
ENST00000594416.1:c.88+48G= (B9D2) ENSP00000469666.1:n.88+48G=
ENST00000601597.1:n.227+48G= (B9D2)
ENST00000604123.5:c.142+9069C= (TMEM91) ENSP00000474871.1:n.142+9069C=
ENST00000604424.1:n.350+12182C=
NM_030578.3:c.88+48G= (B9D2) NP_085055.2:n.88+48G=
XM_006723405.1:c.88+48G= (B9D2) XP_006723468.1:n.88+48G=
XM_011527349.1:c.88+48G= (B9D2) XP_011525651.1:n.88+48G=
XM_011527350.1:c.-72+574G= (B9D2) XP_011525652.1:n.-72+574G=
XM_011527349.2:c.88+48G= (B9D2) XP_011525651.1:n.88+48G=
XM_011527350.2:c.-72+574G= (B9D2) XP_011525652.1:n.-72+574G=
NM_030578.4:c.88+48G= (B9D2) MANE Select NP_085055.2:n.88+48G=