Canonical Allele Identifier: CA2336431378

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364010T= , CM000681.2:g.41364010T= GRCh38
NC_000019.9:g.41869915T= , CM000681.1:g.41869915T= GRCh37
NC_000019.8:g.46561755T= NCBI36
NG_013091.1:g.5164A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-57A= (B9D2) MANE Select ENSP00000243578.2:n.-57A=
ENST00000243578.7:c.-57A= (B9D2) ENSP00000243578.2:n.-57A=
ENST00000539627.5:c.-30+12808T= (TMEM91) ENSP00000441900.1:n.-30+12808T=
ENST00000594416.1:c.-57A= (B9D2) ENSP00000469666.1:n.-57A=
ENST00000601597.1:n.83A= (B9D2)
ENST00000604123.5:c.142+9695T= (TMEM91) ENSP00000474871.1:n.142+9695T=
ENST00000604424.1:n.350+12808T=
NM_001098825.1:c.-115T= (TMEM91) NP_001092295.1:n.-115T=
NM_030578.3:c.-57A= (B9D2) NP_085055.2:n.-57A=
XM_006723405.1:c.-57A= (B9D2) XP_006723468.1:n.-57A=
XM_011527350.1:c.-124A= (B9D2) XP_011525652.1:n.-124A=
XM_011527350.2:c.-124A= (B9D2) XP_011525652.1:n.-124A=
NM_030578.4:c.-57A= (B9D2) MANE Select NP_085055.2:n.-57A=
NM_001369864.1:c.-372T= (TMEM91) NP_001356793.1:n.-372T=
NM_001098825.2:c.-115T= (TMEM91) NP_001092295.1:n.-115T=