Canonical Allele Identifier: CA995970711

Linked Data

dbSNP Id: rs2038465191

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364004T>A , CM000681.2:g.41364004T>A GRCh38
NC_000019.9:g.41869909T>A , CM000681.1:g.41869909T>A GRCh37
NC_000019.8:g.46561749T>A NCBI36
NG_013091.1:g.5170A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-51A>T (B9D2) MANE Select ENSP00000243578.2:n.-51A>T
ENST00000243578.7:c.-51A>T (B9D2) ENSP00000243578.2:n.-51A>T
ENST00000539627.5:c.-30+12802T>A (TMEM91) ENSP00000441900.1:n.-30+12802T>A
ENST00000594416.1:c.-51A>T (B9D2) ENSP00000469666.1:n.-51A>T
ENST00000601597.1:n.89A>T (B9D2)
ENST00000604123.5:c.142+9689T>A (TMEM91) ENSP00000474871.1:n.142+9689T>A
ENST00000604424.1:n.350+12802T>A
NM_001098825.1:c.-121T>A (TMEM91) NP_001092295.1:n.-121T>A
NM_030578.3:c.-51A>T (B9D2) NP_085055.2:n.-51A>T
XM_006723405.1:c.-51A>T (B9D2) XP_006723468.1:n.-51A>T
XM_011527350.1:c.-118A>T (B9D2) XP_011525652.1:n.-118A>T
XM_011527350.2:c.-118A>T (B9D2) XP_011525652.1:n.-118A>T
NM_030578.4:c.-51A>T (B9D2) MANE Select NP_085055.2:n.-51A>T
NM_001369864.1:c.-378T>A (TMEM91) NP_001356793.1:n.-378T>A
NM_001098825.2:c.-121T>A (TMEM91) NP_001092295.1:n.-121T>A