Canonical Allele Identifier: CA308521115

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs144899065
• gnomAD v3: 19-41355359-T-A
• gnomAD v4: 19-41355359-T-A
• MyVariant Identifiers: chr19:g.41861264T>A (hg19) ; chr19:g.41355359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355359T>A , CM000681.2:g.41355359T>A	GRCh38
NC_000019.9:g.41861264T>A , CM000681.1:g.41861264T>A	GRCh37
NC_000019.8:g.46553104T>A	NCBI36
NG_013091.1:g.13815A>T
NG_013364.1:g.3568A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.215-346A>T (B9D2) MANE Select	ENSP00000243578.2:n.215-346A>T
ENST00000675972.1:c.215-346A>T (B9D2)	ENSP00000501911.1:n.215-346A>T
ENST00000243578.7:c.215-346A>T (B9D2)	ENSP00000243578.2:n.215-346A>T
ENST00000539627.5:c.-30+4157T>A (TMEM91)	ENSP00000441900.1:n.-30+4157T>A
ENST00000594416.1:c.*61-346A>T (B9D2)	ENSP00000469666.1:n.*61-346A>T
ENST00000604123.5:c.142+1044T>A (TMEM91)	ENSP00000474871.1:n.142+1044T>A
ENST00000604424.1:n.350+4157T>A
NM_030578.3:c.215-346A>T (B9D2)	NP_085055.2:n.215-346A>T
XM_006723405.1:c.89-346A>T (B9D2)	XP_006723468.1:n.89-346A>T
XM_011527349.1:c.215-346A>T (B9D2)	XP_011525651.1:n.215-346A>T
XM_011527350.1:c.56-346A>T (B9D2)	XP_011525652.1:n.56-346A>T
XM_011527349.2:c.215-346A>T (B9D2)	XP_011525651.1:n.215-346A>T
XM_011527350.2:c.56-346A>T (B9D2)	XP_011525652.1:n.56-346A>T
NM_030578.4:c.215-346A>T (B9D2) MANE Select	NP_085055.2:n.215-346A>T