Canonical Allele Identifier: CA2735922478

Linked Data

dbSNP Id: rs2038465784

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364017C>A , CM000681.2:g.41364017C>A GRCh38
NC_000019.9:g.41869922C>A , CM000681.1:g.41869922C>A GRCh37
NC_000019.8:g.46561762C>A NCBI36
NG_013091.1:g.5157G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-64G>T (B9D2) MANE Select ENSP00000243578.2:n.-64G>T
ENST00000243578.7:c.-64G>T (B9D2) ENSP00000243578.2:n.-64G>T
ENST00000539627.5:c.-30+12815C>A (TMEM91) ENSP00000441900.1:n.-30+12815C>A
ENST00000594416.1:c.-64G>T (B9D2) ENSP00000469666.1:n.-64G>T
ENST00000601597.1:n.76G>T (B9D2)
ENST00000604123.5:c.142+9702C>A (TMEM91) ENSP00000474871.1:n.142+9702C>A
ENST00000604424.1:n.350+12815C>A
NM_001098825.1:c.-108C>A (TMEM91) NP_001092295.1:n.-108C>A
NM_030578.3:c.-64G>T (B9D2) NP_085055.2:n.-64G>T
XM_006723405.1:c.-64G>T (B9D2) XP_006723468.1:n.-64G>T
XM_011527350.1:c.-131G>T (B9D2) XP_011525652.1:n.-131G>T
XM_011527350.2:c.-131G>T (B9D2) XP_011525652.1:n.-131G>T
NM_030578.4:c.-64G>T (B9D2) MANE Select NP_085055.2:n.-64G>T
NM_001369864.1:c.-365C>A (TMEM91) NP_001356793.1:n.-365C>A
NM_001098825.2:c.-108C>A (TMEM91) NP_001092295.1:n.-108C>A