Canonical Allele Identifier: CA9460393

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 3132734
• ClinVar RCV Id: RCV004423644
• dbSNP Id: rs369719890
• ExAC: 19:41869393 A / G
• gnomAD v2: 19-41869393-A-G
• MyVariant Identifiers: chr19:g.41869393A>G (hg19) ; chr19:g.41363488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363488A>G , CM000681.2:g.41363488A>G	GRCh38
NC_000019.9:g.41869393A>G , CM000681.1:g.41869393A>G	GRCh37
NC_000019.8:g.46561233A>G	NCBI36
NG_013091.1:g.5686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.32T>C (B9D2) MANE Select	ENSP00000243578.2:p.Ile11Thr
ENST00000675972.1:c.32T>C (B9D2)	ENSP00000501911.1:p.Ile11Thr
ENST00000243578.7:c.32T>C (B9D2)	ENSP00000243578.2:p.Ile11Thr
ENST00000539627.5:c.-30+12286A>G (TMEM91)	ENSP00000441900.1:n.-30+12286A>G
ENST00000594416.1:c.32T>C (B9D2)	ENSP00000469666.1:p.Ile11Thr
ENST00000601597.1:n.171T>C (B9D2)
ENST00000604123.5:c.142+9173A>G (TMEM91)	ENSP00000474871.1:n.142+9173A>G
ENST00000604424.1:n.350+12286A>G
NM_030578.3:c.32T>C (B9D2)	NP_085055.2:p.Ile11Thr
XM_006723405.1:c.32T>C (B9D2)	XP_006723468.1:p.Ile11Thr
XM_011527349.1:c.32T>C (B9D2)	XP_011525651.1:p.Ile11Thr
XM_011527350.1:c.-72+470T>C (B9D2)	XP_011525652.1:n.-72+470T>C
XM_011527349.2:c.32T>C (B9D2)	XP_011525651.1:p.Ile11Thr
XM_011527350.2:c.-72+470T>C (B9D2)	XP_011525652.1:n.-72+470T>C
NM_030578.4:c.32T>C (B9D2) MANE Select	NP_085055.2:p.Ile11Thr