Canonical Allele Identifier: CA2585300381

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364042C>T , CM000681.2:g.41364042C>T GRCh38
NC_000019.9:g.41869947C>T , CM000681.1:g.41869947C>T GRCh37
NC_000019.8:g.46561787C>T NCBI36
NG_013091.1:g.5132G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-89G>A (B9D2) MANE Select ENSP00000243578.2:n.-89G>A
ENST00000243578.7:c.-89G>A (B9D2) ENSP00000243578.2:n.-89G>A
ENST00000539627.5:c.-30+12840C>T (TMEM91) ENSP00000441900.1:n.-30+12840C>T
ENST00000594416.1:c.-89G>A (B9D2) ENSP00000469666.1:n.-89G>A
ENST00000601597.1:n.51G>A (B9D2)
ENST00000604123.5:c.142+9727C>T (TMEM91) ENSP00000474871.1:n.142+9727C>T
ENST00000604424.1:n.350+12840C>T
NM_001098825.1:c.-83C>T (TMEM91) NP_001092295.1:n.-83C>T
NM_030578.3:c.-89G>A (B9D2) NP_085055.2:n.-89G>A
XM_006723405.1:c.-89G>A (B9D2) XP_006723468.1:n.-89G>A
XM_011527350.1:c.-156G>A (B9D2) XP_011525652.1:n.-156G>A
XM_011527350.2:c.-156G>A (B9D2) XP_011525652.1:n.-156G>A
NM_030578.4:c.-89G>A (B9D2) MANE Select NP_085055.2:n.-89G>A
NM_001369864.1:c.-340C>T (TMEM91) NP_001356793.1:n.-340C>T
NM_001098825.2:c.-83C>T (TMEM91) NP_001092295.1:n.-83C>T