Canonical Allele Identifier: CA2336431073

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363571T= , CM000681.2:g.41363571T= GRCh38
NC_000019.9:g.41869476T= , CM000681.1:g.41869476T= GRCh37
NC_000019.8:g.46561316T= NCBI36
NG_013091.1:g.5603A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-4-48A= (B9D2) MANE Select ENSP00000243578.2:n.-4-48A=
ENST00000675972.1:c.-4-48A= (B9D2) ENSP00000501911.1:n.-4-48A=
ENST00000243578.7:c.-4-48A= (B9D2) ENSP00000243578.2:n.-4-48A=
ENST00000539627.5:c.-30+12369T= (TMEM91) ENSP00000441900.1:n.-30+12369T=
ENST00000594416.1:c.-4-48A= (B9D2) ENSP00000469666.1:n.-4-48A=
ENST00000601597.1:n.136-48A= (B9D2)
ENST00000604123.5:c.142+9256T= (TMEM91) ENSP00000474871.1:n.142+9256T=
ENST00000604424.1:n.350+12369T=
NM_030578.3:c.-4-48A= (B9D2) NP_085055.2:n.-4-48A=
XM_006723405.1:c.-4-48A= (B9D2) XP_006723468.1:n.-4-48A=
XM_011527349.1:c.-4-48A= (B9D2) XP_011525651.1:n.-4-48A=
XM_011527350.1:c.-72+387A= (B9D2) XP_011525652.1:n.-72+387A=
XM_011527349.2:c.-4-48A= (B9D2) XP_011525651.1:n.-4-48A=
XM_011527350.2:c.-72+387A= (B9D2) XP_011525652.1:n.-72+387A=
NM_030578.4:c.-4-48A= (B9D2) MANE Select NP_085055.2:n.-4-48A=