Canonical Allele Identifier: CA406011972

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1285233782
• gnomAD v2: 19-41869369-C-A
• gnomAD v4: 19-41363464-C-A
• MyVariant Identifiers: chr19:g.41869369C>A (hg19) ; chr19:g.41363464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363464C>A , CM000681.2:g.41363464C>A	GRCh38
NC_000019.9:g.41869369C>A , CM000681.1:g.41869369C>A	GRCh37
NC_000019.8:g.46561209C>A	NCBI36
NG_013091.1:g.5710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.56G>T (B9D2) MANE Select	ENSP00000243578.2:p.Ser19Ile
ENST00000675972.1:c.56G>T (B9D2)	ENSP00000501911.1:p.Ser19Ile
ENST00000243578.7:c.56G>T (B9D2)	ENSP00000243578.2:p.Ser19Ile
ENST00000539627.5:c.-30+12262C>A (TMEM91)	ENSP00000441900.1:n.-30+12262C>A
ENST00000594416.1:c.56G>T (B9D2)	ENSP00000469666.1:p.Ser19Ile
ENST00000601597.1:n.195G>T (B9D2)
ENST00000604123.5:c.142+9149C>A (TMEM91)	ENSP00000474871.1:n.142+9149C>A
ENST00000604424.1:n.350+12262C>A
NM_030578.3:c.56G>T (B9D2)	NP_085055.2:p.Ser19Ile
XM_006723405.1:c.56G>T (B9D2)	XP_006723468.1:p.Ser19Ile
XM_011527349.1:c.56G>T (B9D2)	XP_011525651.1:p.Ser19Ile
XM_011527350.1:c.-72+494G>T (B9D2)	XP_011525652.1:n.-72+494G>T
XM_011527349.2:c.56G>T (B9D2)	XP_011525651.1:p.Ser19Ile
XM_011527350.2:c.-72+494G>T (B9D2)	XP_011525652.1:n.-72+494G>T
NM_030578.4:c.56G>T (B9D2) MANE Select	NP_085055.2:p.Ser19Ile