Canonical Allele Identifier: CA2585300357

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364000G>T , CM000681.2:g.41364000G>T GRCh38
NC_000019.9:g.41869905G>T , CM000681.1:g.41869905G>T GRCh37
NC_000019.8:g.46561745G>T NCBI36
NG_013091.1:g.5174C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-47C>A (B9D2) MANE Select ENSP00000243578.2:n.-47C>A
ENST00000243578.7:c.-47C>A (B9D2) ENSP00000243578.2:n.-47C>A
ENST00000539627.5:c.-30+12798G>T (TMEM91) ENSP00000441900.1:n.-30+12798G>T
ENST00000594416.1:c.-47C>A (B9D2) ENSP00000469666.1:n.-47C>A
ENST00000601597.1:n.93C>A (B9D2)
ENST00000604123.5:c.142+9685G>T (TMEM91) ENSP00000474871.1:n.142+9685G>T
ENST00000604424.1:n.350+12798G>T
NM_001098825.1:c.-125G>T (TMEM91) NP_001092295.1:n.-125G>T
NM_030578.3:c.-47C>A (B9D2) NP_085055.2:n.-47C>A
XM_006723405.1:c.-47C>A (B9D2) XP_006723468.1:n.-47C>A
XM_011527350.1:c.-114C>A (B9D2) XP_011525652.1:n.-114C>A
XM_011527350.2:c.-114C>A (B9D2) XP_011525652.1:n.-114C>A
NM_030578.4:c.-47C>A (B9D2) MANE Select NP_085055.2:n.-47C>A
NM_001369864.1:c.-382G>T (TMEM91) NP_001356793.1:n.-382G>T
NM_001098825.2:c.-125G>T (TMEM91) NP_001092295.1:n.-125G>T