Canonical Allele Identifier: CA2585300241

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363873C>T , CM000681.2:g.41363873C>T GRCh38
NC_000019.9:g.41869778C>T , CM000681.1:g.41869778C>T GRCh37
NC_000019.8:g.46561618C>T NCBI36
NG_013091.1:g.5301G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.-5+85G>A (B9D2) MANE Select ENSP00000243578.2:n.-5+85G>A
ENST00000675972.1:c.-114G>A (B9D2) ENSP00000501911.1:n.-114G>A
ENST00000243578.7:c.-5+85G>A (B9D2) ENSP00000243578.2:n.-5+85G>A
ENST00000539627.5:c.-30+12671C>T (TMEM91) ENSP00000441900.1:n.-30+12671C>T
ENST00000594416.1:c.-5+85G>A (B9D2) ENSP00000469666.1:n.-5+85G>A
ENST00000601597.1:n.135+85G>A (B9D2)
ENST00000604123.5:c.142+9558C>T (TMEM91) ENSP00000474871.1:n.142+9558C>T
ENST00000604424.1:n.350+12671C>T
NM_030578.3:c.-5+85G>A (B9D2) NP_085055.2:n.-5+85G>A
XM_006723405.1:c.-5+85G>A (B9D2) XP_006723468.1:n.-5+85G>A
XM_011527349.1:c.-114G>A (B9D2) XP_011525651.1:n.-114G>A
XM_011527350.1:c.-72+85G>A (B9D2) XP_011525652.1:n.-72+85G>A
XM_011527349.2:c.-114G>A (B9D2) XP_011525651.1:n.-114G>A
XM_011527350.2:c.-72+85G>A (B9D2) XP_011525652.1:n.-72+85G>A
NM_030578.4:c.-5+85G>A (B9D2) MANE Select NP_085055.2:n.-5+85G>A