Canonical Allele Identifier: CA2336427208
Community Standard Title: NM_030578.4(B9D2):c.463G= (p.Gly155=)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354765C= , CM000681.2:g.41354765C= GRCh38
NC_000019.9:g.41860670C= , CM000681.1:g.41860670C= GRCh37
NC_000019.8:g.46552510C= NCBI36
NG_013091.1:g.14409G=
NG_013364.1:g.4162G=

Transcript Alleles

HGVS Amino-acid Change
NM_030578.4:c.463G= (B9D2) MANE Select NP_085055.2:p.Gly155=
ENST00000243578.8:c.463G= (B9D2) MANE Select ENSP00000243578.2:p.Gly155=
NM_030578.3:c.463G= (B9D2) NP_085055.2:p.Gly155=
ENST00000243578.7:c.463G= (B9D2) ENSP00000243578.2:p.Gly155=
ENST00000539627.5:c.-30+3563C= (TMEM91) ENSP00000441900.1:n.-30+3563C=
ENST00000594416.1:c.*309G= (B9D2) ENSP00000469666.1:n.*309G=
ENST00000604123.5:c.142+450C= (TMEM91) ENSP00000474871.1:n.142+450C=
ENST00000604424.1:n.350+3563C=
ENST00000675972.1:c.463G= (B9D2) ENSP00000501911.1:p.Gly155=
XM_006723405.1:c.337G= (B9D2) XP_006723468.1:p.Gly113=
XM_011527349.1:c.463G= (B9D2) XP_011525651.1:p.Gly155=
XM_011527349.2:c.463G= (B9D2) XP_011525651.1:p.Gly155=
XM_011527350.1:c.304G= (B9D2) XP_011525652.1:p.Gly102=
XM_011527350.2:c.304G= (B9D2) XP_011525652.1:p.Gly102=