Canonical Allele Identifier: CA995970725

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs2038466023
• gnomAD v3: 19-41364023-T-C
• gnomAD v4: 19-41364023-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41364023T>C , CM000681.2:g.41364023T>C	GRCh38
NC_000019.9:g.41869928T>C , CM000681.1:g.41869928T>C	GRCh37
NC_000019.8:g.46561768T>C	NCBI36
NG_013091.1:g.5151A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-70A>G (B9D2) MANE Select	ENSP00000243578.2:n.-70A>G
ENST00000243578.7:c.-70A>G (B9D2)	ENSP00000243578.2:n.-70A>G
ENST00000539627.5:c.-30+12821T>C (TMEM91)	ENSP00000441900.1:n.-30+12821T>C
ENST00000594416.1:c.-70A>G (B9D2)	ENSP00000469666.1:n.-70A>G
ENST00000601597.1:n.70A>G (B9D2)
ENST00000604123.5:c.142+9708T>C (TMEM91)	ENSP00000474871.1:n.142+9708T>C
ENST00000604424.1:n.350+12821T>C
NM_001098825.1:c.-102T>C (TMEM91)	NP_001092295.1:n.-102T>C
NM_030578.3:c.-70A>G (B9D2)	NP_085055.2:n.-70A>G
XM_006723405.1:c.-70A>G (B9D2)	XP_006723468.1:n.-70A>G
XM_011527350.1:c.-137A>G (B9D2)	XP_011525652.1:n.-137A>G
XM_011527350.2:c.-137A>G (B9D2)	XP_011525652.1:n.-137A>G
NM_030578.4:c.-70A>G (B9D2) MANE Select	NP_085055.2:n.-70A>G
NM_001369864.1:c.-359T>C (TMEM91)	NP_001356793.1:n.-359T>C
NM_001098825.2:c.-102T>C (TMEM91)	NP_001092295.1:n.-102T>C