Canonical Allele Identifier: CA2336431117

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363666G= , CM000681.2:g.41363666G= GRCh38
NC_000019.9:g.41869571G= , CM000681.1:g.41869571G= GRCh37
NC_000019.8:g.46561411G= NCBI36
NG_013091.1:g.5508C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-4-143C= (B9D2) MANE Select ENSP00000243578.2:n.-4-143C=
ENST00000675972.1:c.-5+98C= (B9D2) ENSP00000501911.1:n.-5+98C=
ENST00000243578.7:c.-4-143C= (B9D2) ENSP00000243578.2:n.-4-143C=
ENST00000539627.5:c.-30+12464G= (TMEM91) ENSP00000441900.1:n.-30+12464G=
ENST00000594416.1:c.-4-143C= (B9D2) ENSP00000469666.1:n.-4-143C=
ENST00000601597.1:n.136-143C= (B9D2)
ENST00000604123.5:c.142+9351G= (TMEM91) ENSP00000474871.1:n.142+9351G=
ENST00000604424.1:n.350+12464G=
NM_030578.3:c.-4-143C= (B9D2) NP_085055.2:n.-4-143C=
XM_006723405.1:c.-4-143C= (B9D2) XP_006723468.1:n.-4-143C=
XM_011527349.1:c.-5+98C= (B9D2) XP_011525651.1:n.-5+98C=
XM_011527350.1:c.-72+292C= (B9D2) XP_011525652.1:n.-72+292C=
XM_011527349.2:c.-5+98C= (B9D2) XP_011525651.1:n.-5+98C=
XM_011527350.2:c.-72+292C= (B9D2) XP_011525652.1:n.-72+292C=
NM_030578.4:c.-4-143C= (B9D2) MANE Select NP_085055.2:n.-4-143C=