Canonical Allele Identifier: CA406007565

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs2038276751
• MyVariant Identifiers: chr19:g.41860610A>G (hg19) ; chr19:g.41354705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354705A>G , CM000681.2:g.41354705A>G	GRCh38
NC_000019.9:g.41860610A>G , CM000681.1:g.41860610A>G	GRCh37
NC_000019.8:g.46552450A>G	NCBI36
NG_013091.1:g.14469T>C
NG_013364.1:g.4222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.523T>C (B9D2) MANE Select	ENSP00000243578.2:p.Cys175Arg
ENST00000675972.1:c.523T>C (B9D2)	ENSP00000501911.1:p.Cys175Arg
ENST00000243578.7:c.523T>C (B9D2)	ENSP00000243578.2:p.Cys175Arg
ENST00000539627.5:c.-30+3503A>G (TMEM91)	ENSP00000441900.1:n.-30+3503A>G
ENST00000594416.1:c.*369T>C (B9D2)	ENSP00000469666.1:n.*369T>C
ENST00000604123.5:c.142+390A>G (TMEM91)	ENSP00000474871.1:n.142+390A>G
ENST00000604424.1:n.350+3503A>G
NM_030578.3:c.523T>C (B9D2)	NP_085055.2:p.Cys175Arg
XM_006723405.1:c.397T>C (B9D2)	XP_006723468.1:p.Cys133Arg
XM_011527349.1:c.523T>C (B9D2)	XP_011525651.1:p.Cys175Arg
XM_011527350.1:c.364T>C (B9D2)	XP_011525652.1:p.Cys122Arg
XM_011527349.2:c.523T>C (B9D2)	XP_011525651.1:p.Cys175Arg
XM_011527350.2:c.364T>C (B9D2)	XP_011525652.1:p.Cys122Arg
NM_030578.4:c.523T>C (B9D2) MANE Select	NP_085055.2:p.Cys175Arg