Canonical Allele Identifier: CA507689860

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1339270072
• gnomAD v2: 19-41860611-C-T
• gnomAD v4: 19-41354706-C-T
• MyVariant Identifiers: chr19:g.41860611C>T (hg19) ; chr19:g.41354706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354706C>T , CM000681.2:g.41354706C>T	GRCh38
NC_000019.9:g.41860611C>T , CM000681.1:g.41860611C>T	GRCh37
NC_000019.8:g.46552451C>T	NCBI36
NG_013091.1:g.14468G>A
NG_013364.1:g.4221G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.522G>A (B9D2) MANE Select	ENSP00000243578.2:p.Glu174=
ENST00000675972.1:c.522G>A (B9D2)	ENSP00000501911.1:p.Glu174=
ENST00000243578.7:c.522G>A (B9D2)	ENSP00000243578.2:p.Glu174=
ENST00000539627.5:c.-30+3504C>T (TMEM91)	ENSP00000441900.1:n.-30+3504C>T
ENST00000594416.1:c.*368G>A (B9D2)	ENSP00000469666.1:n.*368G>A
ENST00000604123.5:c.142+391C>T (TMEM91)	ENSP00000474871.1:n.142+391C>T
ENST00000604424.1:n.350+3504C>T
NM_030578.3:c.522G>A (B9D2)	NP_085055.2:p.Glu174=
XM_006723405.1:c.396G>A (B9D2)	XP_006723468.1:p.Glu132=
XM_011527349.1:c.522G>A (B9D2)	XP_011525651.1:p.Glu174=
XM_011527350.1:c.363G>A (B9D2)	XP_011525652.1:p.Glu121=
XM_011527349.2:c.522G>A (B9D2)	XP_011525651.1:p.Glu174=
XM_011527350.2:c.363G>A (B9D2)	XP_011525652.1:p.Glu121=
NM_030578.4:c.522G>A (B9D2) MANE Select	NP_085055.2:p.Glu174=