Canonical Allele Identifier: CA882336116

Linked Data

dbSNP Id: rs1256314062

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364053C>A , CM000681.2:g.41364053C>A GRCh38
NC_000019.9:g.41869958C>A , CM000681.1:g.41869958C>A GRCh37
NC_000019.8:g.46561798C>A NCBI36
NG_013091.1:g.5121G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-100G>T (B9D2) MANE Select ENSP00000243578.2:n.-100G>T
ENST00000243578.7:c.-100G>T (B9D2) ENSP00000243578.2:n.-100G>T
ENST00000539627.5:c.-30+12851C>A (TMEM91) ENSP00000441900.1:n.-30+12851C>A
ENST00000594416.1:c.-100G>T (B9D2) ENSP00000469666.1:n.-100G>T
ENST00000601597.1:n.40G>T (B9D2)
ENST00000604123.5:c.142+9738C>A (TMEM91) ENSP00000474871.1:n.142+9738C>A
ENST00000604424.1:n.350+12851C>A
NM_001098825.1:c.-72C>A (TMEM91) NP_001092295.1:n.-72C>A
NM_030578.3:c.-100G>T (B9D2) NP_085055.2:n.-100G>T
XM_006723405.1:c.-100G>T (B9D2) XP_006723468.1:n.-100G>T
XM_011527350.1:c.-167G>T (B9D2) XP_011525652.1:n.-167G>T
XM_011527350.2:c.-167G>T (B9D2) XP_011525652.1:n.-167G>T
NM_030578.4:c.-100G>T (B9D2) MANE Select NP_085055.2:n.-100G>T
NM_001369864.1:c.-329C>A (TMEM91) NP_001356793.1:n.-329C>A
NM_001098825.2:c.-72C>A (TMEM91) NP_001092295.1:n.-72C>A