Canonical Allele Identifier: CA406012162

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363511C>A , CM000681.2:g.41363511C>A GRCh38
NC_000019.9:g.41869416C>A , CM000681.1:g.41869416C>A GRCh37
NC_000019.8:g.46561256C>A NCBI36
NG_013091.1:g.5663G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.9G>T (B9D2) MANE Select ENSP00000243578.2:p.Glu3Asp
ENST00000675972.1:c.9G>T (B9D2) ENSP00000501911.1:p.Glu3Asp
ENST00000243578.7:c.9G>T (B9D2) ENSP00000243578.2:p.Glu3Asp
ENST00000539627.5:c.-30+12309C>A (TMEM91) ENSP00000441900.1:n.-30+12309C>A
ENST00000594416.1:c.9G>T (B9D2) ENSP00000469666.1:p.Glu3Asp
ENST00000601597.1:n.148G>T (B9D2)
ENST00000604123.5:c.142+9196C>A (TMEM91) ENSP00000474871.1:n.142+9196C>A
ENST00000604424.1:n.350+12309C>A
NM_030578.3:c.9G>T (B9D2) NP_085055.2:p.Glu3Asp
XM_006723405.1:c.9G>T (B9D2) XP_006723468.1:p.Glu3Asp
XM_011527349.1:c.9G>T (B9D2) XP_011525651.1:p.Glu3Asp
XM_011527350.1:c.-72+447G>T (B9D2) XP_011525652.1:n.-72+447G>T
XM_011527349.2:c.9G>T (B9D2) XP_011525651.1:p.Glu3Asp
XM_011527350.2:c.-72+447G>T (B9D2) XP_011525652.1:n.-72+447G>T
NM_030578.4:c.9G>T (B9D2) MANE Select NP_085055.2:p.Glu3Asp