Canonical Allele Identifier: CA995965433

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355487T>C , CM000681.2:g.41355487T>C GRCh38
NC_000019.9:g.41861392T>C , CM000681.1:g.41861392T>C GRCh37
NC_000019.8:g.46553232T>C NCBI36
NG_013091.1:g.13687A>G
NG_013364.1:g.3440A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-474A>G (B9D2) MANE Select ENSP00000243578.2:n.215-474A>G
ENST00000675972.1:c.215-474A>G (B9D2) ENSP00000501911.1:n.215-474A>G
ENST00000243578.7:c.215-474A>G (B9D2) ENSP00000243578.2:n.215-474A>G
ENST00000539627.5:c.-30+4285T>C (TMEM91) ENSP00000441900.1:n.-30+4285T>C
ENST00000594416.1:c.*61-474A>G (B9D2) ENSP00000469666.1:n.*61-474A>G
ENST00000604123.5:c.142+1172T>C (TMEM91) ENSP00000474871.1:n.142+1172T>C
ENST00000604424.1:n.350+4285T>C
NM_030578.3:c.215-474A>G (B9D2) NP_085055.2:n.215-474A>G
XM_006723405.1:c.89-474A>G (B9D2) XP_006723468.1:n.89-474A>G
XM_011527349.1:c.215-474A>G (B9D2) XP_011525651.1:n.215-474A>G
XM_011527350.1:c.56-474A>G (B9D2) XP_011525652.1:n.56-474A>G
XM_011527349.2:c.215-474A>G (B9D2) XP_011525651.1:n.215-474A>G
XM_011527350.2:c.56-474A>G (B9D2) XP_011525652.1:n.56-474A>G
NM_030578.4:c.215-474A>G (B9D2) MANE Select NP_085055.2:n.215-474A>G