Canonical Allele Identifier: CA9460326

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 241603
• ClinVar RCV Id: RCV000229326 ; RCV000254415 ; RCV001546593
• dbSNP Id: rs34088631
• ExAC: 19:41863821 G / A
• gnomAD v2: 19-41863821-G-A
• gnomAD v3: 19-41357916-G-A
• gnomAD v4: 19-41357916-G-A
• MyVariant Identifiers: chr19:g.41863821G>A (hg19) ; chr19:g.41357916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41357916G>A , CM000681.2:g.41357916G>A	GRCh38
NC_000019.9:g.41863821G>A , CM000681.1:g.41863821G>A	GRCh37
NC_000019.8:g.46555661G>A	NCBI36
NG_013091.1:g.11258C>T
NG_013364.1:g.1011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.195C>T (B9D2) MANE Select	ENSP00000243578.2:p.Phe65=
ENST00000675972.1:c.195C>T (B9D2)	ENSP00000501911.1:p.Phe65=
ENST00000243578.7:c.195C>T (B9D2)	ENSP00000243578.2:p.Phe65=
ENST00000539627.5:c.-30+6714G>A (TMEM91)	ENSP00000441900.1:n.-30+6714G>A
ENST00000594416.1:c.*41C>T (B9D2)	ENSP00000469666.1:n.*41C>T
ENST00000604123.5:c.142+3601G>A (TMEM91)	ENSP00000474871.1:n.142+3601G>A
ENST00000604424.1:n.350+6714G>A
NM_030578.3:c.195C>T (B9D2)	NP_085055.2:p.Phe65=
XM_006723405.1:c.89-2903C>T (B9D2)	XP_006723468.1:n.89-2903C>T
XM_011527349.1:c.195C>T (B9D2)	XP_011525651.1:p.Phe65=
XM_011527350.1:c.36C>T (B9D2)	XP_011525652.1:p.Phe12=
XM_011527349.2:c.195C>T (B9D2)	XP_011525651.1:p.Phe65=
XM_011527350.2:c.36C>T (B9D2)	XP_011525652.1:p.Phe12=
NM_030578.4:c.195C>T (B9D2) MANE Select	NP_085055.2:p.Phe65=