Canonical Allele Identifier: CA2336427161

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354685T= , CM000681.2:g.41354685T= GRCh38
NC_000019.9:g.41860590T= , CM000681.1:g.41860590T= GRCh37
NC_000019.8:g.46552430T= NCBI36
NG_013091.1:g.14489A=
NG_013364.1:g.4242A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.*15A= (B9D2) MANE Select ENSP00000243578.2:n.*15A=
ENST00000675972.1:c.*15A= (B9D2) ENSP00000501911.1:n.*15A=
ENST00000243578.7:c.*15A= (B9D2) ENSP00000243578.2:n.*15A=
ENST00000539627.5:c.-30+3483T= (TMEM91) ENSP00000441900.1:n.-30+3483T=
ENST00000604123.5:c.142+370T= (TMEM91) ENSP00000474871.1:n.142+370T=
ENST00000604424.1:n.350+3483T=
NM_030578.3:c.*15A= (B9D2) NP_085055.2:n.*15A=
XM_006723405.1:c.*15A= (B9D2) XP_006723468.1:n.*15A=
XM_011527349.1:c.*15A= (B9D2) XP_011525651.1:n.*15A=
XM_011527350.1:c.*15A= (B9D2) XP_011525652.1:n.*15A=
XM_011527349.2:c.*15A= (B9D2) XP_011525651.1:n.*15A=
XM_011527350.2:c.*15A= (B9D2) XP_011525652.1:n.*15A=
NM_030578.4:c.*15A= (B9D2) MANE Select NP_085055.2:n.*15A=