Canonical Allele Identifier: CA2336427583

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355559C= , CM000681.2:g.41355559C= GRCh38
NC_000019.9:g.41861464C= , CM000681.1:g.41861464C= GRCh37
NC_000019.8:g.46553304C= NCBI36
NG_013091.1:g.13615G=
NG_013364.1:g.3368G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.215-546G= (B9D2) MANE Select ENSP00000243578.2:n.215-546G=
ENST00000675972.1:c.215-546G= (B9D2) ENSP00000501911.1:n.215-546G=
ENST00000243578.7:c.215-546G= (B9D2) ENSP00000243578.2:n.215-546G=
ENST00000539627.5:c.-30+4357C= (TMEM91) ENSP00000441900.1:n.-30+4357C=
ENST00000594416.1:c.*61-546G= (B9D2) ENSP00000469666.1:n.*61-546G=
ENST00000604123.5:c.142+1244C= (TMEM91) ENSP00000474871.1:n.142+1244C=
ENST00000604424.1:n.350+4357C=
NM_030578.3:c.215-546G= (B9D2) NP_085055.2:n.215-546G=
XM_006723405.1:c.89-546G= (B9D2) XP_006723468.1:n.89-546G=
XM_011527349.1:c.215-546G= (B9D2) XP_011525651.1:n.215-546G=
XM_011527350.1:c.56-546G= (B9D2) XP_011525652.1:n.56-546G=
XM_011527349.2:c.215-546G= (B9D2) XP_011525651.1:n.215-546G=
XM_011527350.2:c.56-546G= (B9D2) XP_011525652.1:n.56-546G=
NM_030578.4:c.215-546G= (B9D2) MANE Select NP_085055.2:n.215-546G=