Canonical Allele Identifier: CA2336427167

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354692A= , CM000681.2:g.41354692A= GRCh38
NC_000019.9:g.41860597A= , CM000681.1:g.41860597A= GRCh37
NC_000019.8:g.46552437A= NCBI36
NG_013091.1:g.14482T=
NG_013364.1:g.4235T=

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.*8T= (B9D2) MANE Select ENSP00000243578.2:n.*8T=
ENST00000675972.1:c.*8T= (B9D2) ENSP00000501911.1:n.*8T=
ENST00000243578.7:c.*8T= (B9D2) ENSP00000243578.2:n.*8T=
ENST00000539627.5:c.-30+3490A= (TMEM91) ENSP00000441900.1:n.-30+3490A=
ENST00000594416.1:c.*382T= (B9D2) ENSP00000469666.1:n.*382T=
ENST00000604123.5:c.142+377A= (TMEM91) ENSP00000474871.1:n.142+377A=
ENST00000604424.1:n.350+3490A=
NM_030578.3:c.*8T= (B9D2) NP_085055.2:n.*8T=
XM_006723405.1:c.*8T= (B9D2) XP_006723468.1:n.*8T=
XM_011527349.1:c.*8T= (B9D2) XP_011525651.1:n.*8T=
XM_011527350.1:c.*8T= (B9D2) XP_011525652.1:n.*8T=
XM_011527349.2:c.*8T= (B9D2) XP_011525651.1:n.*8T=
XM_011527350.2:c.*8T= (B9D2) XP_011525652.1:n.*8T=
NM_030578.4:c.*8T= (B9D2) MANE Select NP_085055.2:n.*8T=