Canonical Allele Identifier: CA406008844

Gene: B9D2 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354927T>G , CM000681.2:g.41354927T>G	GRCh38
NC_000019.9:g.41860832T>G , CM000681.1:g.41860832T>G	GRCh37
NC_000019.8:g.46552672T>G	NCBI36
NG_013091.1:g.14247A>C
NG_013364.1:g.4000A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_030578.4:c.301A>C (B9D2) MANE Select	NP_085055.2:p.Ser101Arg
ENST00000243578.8:c.301A>C (B9D2) MANE Select	ENSP00000243578.2:p.Ser101Arg
NM_030578.3:c.301A>C (B9D2)	NP_085055.2:p.Ser101Arg
ENST00000243578.7:c.301A>C (B9D2)	ENSP00000243578.2:p.Ser101Arg
ENST00000539627.5:c.-30+3725T>G (TMEM91)	ENSP00000441900.1:n.-30+3725T>G
ENST00000594416.1:c.*147A>C (B9D2)	ENSP00000469666.1:n.*147A>C
ENST00000604123.5:c.142+612T>G (TMEM91)	ENSP00000474871.1:n.142+612T>G
ENST00000604424.1:n.350+3725T>G
ENST00000675972.1:c.301A>C (B9D2)	ENSP00000501911.1:p.Ser101Arg
XM_006723405.1:c.175A>C (B9D2)	XP_006723468.1:p.Ser59Arg
XM_011527349.1:c.301A>C (B9D2)	XP_011525651.1:p.Ser101Arg
XM_011527349.2:c.301A>C (B9D2)	XP_011525651.1:p.Ser101Arg
XM_011527350.1:c.142A>C (B9D2)	XP_011525652.1:p.Ser48Arg
XM_011527350.2:c.142A>C (B9D2)	XP_011525652.1:p.Ser48Arg