Canonical Allele Identifier: CA10648748

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs116599193
• gnomAD v2: 19-41869938-C-T
• gnomAD v3: 19-41364033-C-T
• gnomAD v4: 19-41364033-C-T
• MyVariant Identifiers: chr19:g.41869938C>T (hg19) ; chr19:g.41364033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41364033C>T , CM000681.2:g.41364033C>T	GRCh38
NC_000019.9:g.41869938C>T , CM000681.1:g.41869938C>T	GRCh37
NC_000019.8:g.46561778C>T	NCBI36
NG_013091.1:g.5141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-80G>A (B9D2) MANE Select	ENSP00000243578.2:n.-80G>A
ENST00000243578.7:c.-80G>A (B9D2)	ENSP00000243578.2:n.-80G>A
ENST00000539627.5:c.-30+12831C>T (TMEM91)	ENSP00000441900.1:n.-30+12831C>T
ENST00000594416.1:c.-80G>A (B9D2)	ENSP00000469666.1:n.-80G>A
ENST00000601597.1:n.60G>A (B9D2)
ENST00000604123.5:c.142+9718C>T (TMEM91)	ENSP00000474871.1:n.142+9718C>T
ENST00000604424.1:n.350+12831C>T
NM_001098825.1:c.-92C>T (TMEM91)	NP_001092295.1:n.-92C>T
NM_030578.3:c.-80G>A (B9D2)	NP_085055.2:n.-80G>A
XM_006723405.1:c.-80G>A (B9D2)	XP_006723468.1:n.-80G>A
XM_011527350.1:c.-147G>A (B9D2)	XP_011525652.1:n.-147G>A
XM_011527350.2:c.-147G>A (B9D2)	XP_011525652.1:n.-147G>A
NM_030578.4:c.-80G>A (B9D2) MANE Select	NP_085055.2:n.-80G>A
NM_001369864.1:c.-349C>T (TMEM91)	NP_001356793.1:n.-349C>T
NM_001098825.2:c.-92C>T (TMEM91)	NP_001092295.1:n.-92C>T