Canonical Allele Identifier: CA882330737

Linked Data

dbSNP Id: rs1287137523

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355513G>A , CM000681.2:g.41355513G>A GRCh38
NC_000019.9:g.41861418G>A , CM000681.1:g.41861418G>A GRCh37
NC_000019.8:g.46553258G>A NCBI36
NG_013091.1:g.13661C>T
NG_013364.1:g.3414C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-500C>T (B9D2) MANE Select ENSP00000243578.2:n.215-500C>T
ENST00000675972.1:c.215-500C>T (B9D2) ENSP00000501911.1:n.215-500C>T
ENST00000243578.7:c.215-500C>T (B9D2) ENSP00000243578.2:n.215-500C>T
ENST00000539627.5:c.-30+4311G>A (TMEM91) ENSP00000441900.1:n.-30+4311G>A
ENST00000594416.1:c.*61-500C>T (B9D2) ENSP00000469666.1:n.*61-500C>T
ENST00000604123.5:c.142+1198G>A (TMEM91) ENSP00000474871.1:n.142+1198G>A
ENST00000604424.1:n.350+4311G>A
NM_030578.3:c.215-500C>T (B9D2) NP_085055.2:n.215-500C>T
XM_006723405.1:c.89-500C>T (B9D2) XP_006723468.1:n.89-500C>T
XM_011527349.1:c.215-500C>T (B9D2) XP_011525651.1:n.215-500C>T
XM_011527350.1:c.56-500C>T (B9D2) XP_011525652.1:n.56-500C>T
XM_011527349.2:c.215-500C>T (B9D2) XP_011525651.1:n.215-500C>T
XM_011527350.2:c.56-500C>T (B9D2) XP_011525652.1:n.56-500C>T
NM_030578.4:c.215-500C>T (B9D2) MANE Select NP_085055.2:n.215-500C>T