Canonical Allele Identifier: CA633470214

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1311558612
• gnomAD v2: 19-41860478-G-A
• gnomAD v3: 19-41354573-G-A
• gnomAD v4: 19-41354573-G-A
• MyVariant Identifiers: chr19:g.41860478G>A (hg19) ; chr19:g.41354573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354573G>A , CM000681.2:g.41354573G>A	GRCh38
NC_000019.9:g.41860478G>A , CM000681.1:g.41860478G>A	GRCh37
NC_000019.8:g.46552318G>A	NCBI36
NG_013091.1:g.14601C>T
NG_013364.1:g.4354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.*127C>T (B9D2) MANE Select	ENSP00000243578.2:n.*127C>T
ENST00000675972.1:c.*127C>T (B9D2)	ENSP00000501911.1:n.*127C>T
ENST00000243578.7:c.*127C>T (B9D2)	ENSP00000243578.2:n.*127C>T
ENST00000539627.5:c.-30+3371G>A (TMEM91)	ENSP00000441900.1:n.-30+3371G>A
ENST00000604123.5:c.142+258G>A (TMEM91)	ENSP00000474871.1:n.142+258G>A
ENST00000604424.1:n.350+3371G>A
NM_030578.3:c.*127C>T (B9D2)	NP_085055.2:n.*127C>T
XM_006723405.1:c.*127C>T (B9D2)	XP_006723468.1:n.*127C>T
XM_011527349.1:c.*127C>T (B9D2)	XP_011525651.1:n.*127C>T
XM_011527350.1:c.*127C>T (B9D2)	XP_011525652.1:n.*127C>T
XM_011527349.2:c.*127C>T (B9D2)	XP_011525651.1:n.*127C>T
XM_011527350.2:c.*127C>T (B9D2)	XP_011525652.1:n.*127C>T
NM_030578.4:c.*127C>T (B9D2) MANE Select	NP_085055.2:n.*127C>T