Canonical Allele Identifier: CA882330625

Linked Data

dbSNP Id: rs1332158358

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355261T>A , CM000681.2:g.41355261T>A GRCh38
NC_000019.9:g.41861166T>A , CM000681.1:g.41861166T>A GRCh37
NC_000019.8:g.46553006T>A NCBI36
NG_013091.1:g.13913A>T
NG_013364.1:g.3666A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.215-248A>T (B9D2) MANE Select ENSP00000243578.2:n.215-248A>T
ENST00000675972.1:c.215-248A>T (B9D2) ENSP00000501911.1:n.215-248A>T
ENST00000243578.7:c.215-248A>T (B9D2) ENSP00000243578.2:n.215-248A>T
ENST00000539627.5:c.-30+4059T>A (TMEM91) ENSP00000441900.1:n.-30+4059T>A
ENST00000594416.1:c.*61-248A>T (B9D2) ENSP00000469666.1:n.*61-248A>T
ENST00000604123.5:c.142+946T>A (TMEM91) ENSP00000474871.1:n.142+946T>A
ENST00000604424.1:n.350+4059T>A
NM_030578.3:c.215-248A>T (B9D2) NP_085055.2:n.215-248A>T
XM_006723405.1:c.89-248A>T (B9D2) XP_006723468.1:n.89-248A>T
XM_011527349.1:c.215-248A>T (B9D2) XP_011525651.1:n.215-248A>T
XM_011527350.1:c.56-248A>T (B9D2) XP_011525652.1:n.56-248A>T
XM_011527349.2:c.215-248A>T (B9D2) XP_011525651.1:n.215-248A>T
XM_011527350.2:c.56-248A>T (B9D2) XP_011525652.1:n.56-248A>T
NM_030578.4:c.215-248A>T (B9D2) MANE Select NP_085055.2:n.215-248A>T