Canonical Allele Identifier: CA2336427173

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354706C= , CM000681.2:g.41354706C= GRCh38
NC_000019.9:g.41860611C= , CM000681.1:g.41860611C= GRCh37
NC_000019.8:g.46552451C= NCBI36
NG_013091.1:g.14468G=
NG_013364.1:g.4221G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.522G= (B9D2) MANE Select ENSP00000243578.2:p.Glu174=
ENST00000675972.1:c.522G= (B9D2) ENSP00000501911.1:p.Glu174=
ENST00000243578.7:c.522G= (B9D2) ENSP00000243578.2:p.Glu174=
ENST00000539627.5:c.-30+3504C= (TMEM91) ENSP00000441900.1:n.-30+3504C=
ENST00000594416.1:c.*368G= (B9D2) ENSP00000469666.1:n.*368G=
ENST00000604123.5:c.142+391C= (TMEM91) ENSP00000474871.1:n.142+391C=
ENST00000604424.1:n.350+3504C=
NM_030578.3:c.522G= (B9D2) NP_085055.2:p.Glu174=
XM_006723405.1:c.396G= (B9D2) XP_006723468.1:p.Glu132=
XM_011527349.1:c.522G= (B9D2) XP_011525651.1:p.Glu174=
XM_011527350.1:c.363G= (B9D2) XP_011525652.1:p.Glu121=
XM_011527349.2:c.522G= (B9D2) XP_011525651.1:p.Glu174=
XM_011527350.2:c.363G= (B9D2) XP_011525652.1:p.Glu121=
NM_030578.4:c.522G= (B9D2) MANE Select NP_085055.2:p.Glu174=