Canonical Allele Identifier: CA9460301

Gene: B9D2 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355004C>T , CM000681.2:g.41355004C>T	GRCh38
NC_000019.9:g.41860909C>T , CM000681.1:g.41860909C>T	GRCh37
NC_000019.8:g.46552749C>T	NCBI36
NG_013091.1:g.14170G>A
NG_013364.1:g.3923G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_030578.4:c.224G>A (B9D2) MANE Select	NP_085055.2:p.Arg75Gln
ENST00000243578.8:c.224G>A (B9D2) MANE Select	ENSP00000243578.2:p.Arg75Gln
NM_030578.3:c.224G>A (B9D2)	NP_085055.2:p.Arg75Gln
ENST00000243578.7:c.224G>A (B9D2)	ENSP00000243578.2:p.Arg75Gln
ENST00000539627.5:c.-30+3802C>T (TMEM91)	ENSP00000441900.1:n.-30+3802C>T
ENST00000594416.1:c.*70G>A (B9D2)	ENSP00000469666.1:n.*70G>A
ENST00000604123.5:c.142+689C>T (TMEM91)	ENSP00000474871.1:n.142+689C>T
ENST00000604424.1:n.350+3802C>T
ENST00000675972.1:c.224G>A (B9D2)	ENSP00000501911.1:p.Arg75Gln
XM_006723405.1:c.98G>A (B9D2)	XP_006723468.1:p.Arg33Gln
XM_011527349.1:c.224G>A (B9D2)	XP_011525651.1:p.Arg75Gln
XM_011527349.2:c.224G>A (B9D2)	XP_011525651.1:p.Arg75Gln
XM_011527350.1:c.65G>A (B9D2)	XP_011525652.1:p.Arg22Gln
XM_011527350.2:c.65G>A (B9D2)	XP_011525652.1:p.Arg22Gln