Canonical Allele Identifier: CA2336427076

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354490G= , CM000681.2:g.41354490G= GRCh38
NC_000019.9:g.41860395G= , CM000681.1:g.41860395G= GRCh37
NC_000019.8:g.46552235G= NCBI36
NG_013091.1:g.14684C=
NG_013364.1:g.4437C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.*210C= (B9D2) MANE Select ENSP00000243578.2:n.*210C=
ENST00000675972.1:c.*210C= (B9D2) ENSP00000501911.1:n.*210C=
ENST00000243578.7:c.*210C= (B9D2) ENSP00000243578.2:n.*210C=
ENST00000539627.5:c.-30+3288G= (TMEM91) ENSP00000441900.1:n.-30+3288G=
ENST00000604123.5:c.142+175G= (TMEM91) ENSP00000474871.1:n.142+175G=
ENST00000604424.1:n.350+3288G=
NM_030578.3:c.*210C= (B9D2) NP_085055.2:n.*210C=
XM_006723405.1:c.*210C= (B9D2) XP_006723468.1:n.*210C=
XM_011527349.1:c.*210C= (B9D2) XP_011525651.1:n.*210C=
XM_011527350.1:c.*210C= (B9D2) XP_011525652.1:n.*210C=
XM_011527349.2:c.*210C= (B9D2) XP_011525651.1:n.*210C=
XM_011527350.2:c.*210C= (B9D2) XP_011525652.1:n.*210C=
NM_030578.4:c.*210C= (B9D2) MANE Select NP_085055.2:n.*210C=