Canonical Allele Identifier: CA9460219

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs184348668
• ExAC: 19:41860609 C / T
• gnomAD v2: 19-41860609-C-T
• gnomAD v3: 19-41354704-C-T
• gnomAD v4: 19-41354704-C-T
• MyVariant Identifiers: chr19:g.41860609C>T (hg19) ; chr19:g.41354704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354704C>T , CM000681.2:g.41354704C>T	GRCh38
NC_000019.9:g.41860609C>T , CM000681.1:g.41860609C>T	GRCh37
NC_000019.8:g.46552449C>T	NCBI36
NG_013091.1:g.14470G>A
NG_013364.1:g.4223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.524G>A (B9D2) MANE Select	ENSP00000243578.2:p.Cys175Tyr
ENST00000675972.1:c.524G>A (B9D2)	ENSP00000501911.1:p.Cys175Tyr
ENST00000243578.7:c.524G>A (B9D2)	ENSP00000243578.2:p.Cys175Tyr
ENST00000539627.5:c.-30+3502C>T (TMEM91)	ENSP00000441900.1:n.-30+3502C>T
ENST00000594416.1:c.*370G>A (B9D2)	ENSP00000469666.1:n.*370G>A
ENST00000604123.5:c.142+389C>T (TMEM91)	ENSP00000474871.1:n.142+389C>T
ENST00000604424.1:n.350+3502C>T
NM_030578.3:c.524G>A (B9D2)	NP_085055.2:p.Cys175Tyr
XM_006723405.1:c.398G>A (B9D2)	XP_006723468.1:p.Cys133Tyr
XM_011527349.1:c.524G>A (B9D2)	XP_011525651.1:p.Cys175Tyr
XM_011527350.1:c.365G>A (B9D2)	XP_011525652.1:p.Cys122Tyr
XM_011527349.2:c.524G>A (B9D2)	XP_011525651.1:p.Cys175Tyr
XM_011527350.2:c.365G>A (B9D2)	XP_011525652.1:p.Cys122Tyr
NM_030578.4:c.524G>A (B9D2) MANE Select	NP_085055.2:p.Cys175Tyr