Canonical Allele Identifier: CA9460218

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs761684814
• ExAC: 19:41860601 T / C
• gnomAD v2: 19-41860601-T-C
• gnomAD v3: 19-41354696-T-C
• gnomAD v4: 19-41354696-T-C
• MyVariant Identifiers: chr19:g.41860601T>C (hg19) ; chr19:g.41354696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354696T>C , CM000681.2:g.41354696T>C	GRCh38
NC_000019.9:g.41860601T>C , CM000681.1:g.41860601T>C	GRCh37
NC_000019.8:g.46552441T>C	NCBI36
NG_013091.1:g.14478A>G
NG_013364.1:g.4231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.*4A>G (B9D2) MANE Select	ENSP00000243578.2:n.*4A>G
ENST00000675972.1:c.*4A>G (B9D2)	ENSP00000501911.1:n.*4A>G
ENST00000243578.7:c.*4A>G (B9D2)	ENSP00000243578.2:n.*4A>G
ENST00000539627.5:c.-30+3494T>C (TMEM91)	ENSP00000441900.1:n.-30+3494T>C
ENST00000594416.1:c.*378A>G (B9D2)	ENSP00000469666.1:n.*378A>G
ENST00000604123.5:c.142+381T>C (TMEM91)	ENSP00000474871.1:n.142+381T>C
ENST00000604424.1:n.350+3494T>C
NM_030578.3:c.*4A>G (B9D2)	NP_085055.2:n.*4A>G
XM_006723405.1:c.*4A>G (B9D2)	XP_006723468.1:n.*4A>G
XM_011527349.1:c.*4A>G (B9D2)	XP_011525651.1:n.*4A>G
XM_011527350.1:c.*4A>G (B9D2)	XP_011525652.1:n.*4A>G
XM_011527349.2:c.*4A>G (B9D2)	XP_011525651.1:n.*4A>G
XM_011527350.2:c.*4A>G (B9D2)	XP_011525652.1:n.*4A>G
NM_030578.4:c.*4A>G (B9D2) MANE Select	NP_085055.2:n.*4A>G