Canonical Allele Identifier: CA308520125

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs964473691
• gnomAD v2: 19-41860536-A-G
• gnomAD v3: 19-41354631-A-G
• gnomAD v4: 19-41354631-A-G
• MyVariant Identifiers: chr19:g.41860536A>G (hg19) ; chr19:g.41354631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354631A>G , CM000681.2:g.41354631A>G	GRCh38
NC_000019.9:g.41860536A>G , CM000681.1:g.41860536A>G	GRCh37
NC_000019.8:g.46552376A>G	NCBI36
NG_013091.1:g.14543T>C
NG_013364.1:g.4296T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.*69T>C (B9D2) MANE Select	ENSP00000243578.2:n.*69T>C
ENST00000675972.1:c.*69T>C (B9D2)	ENSP00000501911.1:n.*69T>C
ENST00000243578.7:c.*69T>C (B9D2)	ENSP00000243578.2:n.*69T>C
ENST00000539627.5:c.-30+3429A>G (TMEM91)	ENSP00000441900.1:n.-30+3429A>G
ENST00000604123.5:c.142+316A>G (TMEM91)	ENSP00000474871.1:n.142+316A>G
ENST00000604424.1:n.350+3429A>G
NM_030578.3:c.*69T>C (B9D2)	NP_085055.2:n.*69T>C
XM_006723405.1:c.*69T>C (B9D2)	XP_006723468.1:n.*69T>C
XM_011527349.1:c.*69T>C (B9D2)	XP_011525651.1:n.*69T>C
XM_011527350.1:c.*69T>C (B9D2)	XP_011525652.1:n.*69T>C
XM_011527349.2:c.*69T>C (B9D2)	XP_011525651.1:n.*69T>C
XM_011527350.2:c.*69T>C (B9D2)	XP_011525652.1:n.*69T>C
NM_030578.4:c.*69T>C (B9D2) MANE Select	NP_085055.2:n.*69T>C