Canonical Allele Identifier: CA406007576

Gene: B9D2 TMEM91

Linked Data

• MyVariant Identifiers: chr19:g.41860612T>A (hg19) ; chr19:g.41354707T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354707T>A , CM000681.2:g.41354707T>A	GRCh38
NC_000019.9:g.41860612T>A , CM000681.1:g.41860612T>A	GRCh37
NC_000019.8:g.46552452T>A	NCBI36
NG_013091.1:g.14467A>T
NG_013364.1:g.4220A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.521A>T (B9D2) MANE Select	ENSP00000243578.2:p.Glu174Val
ENST00000675972.1:c.521A>T (B9D2)	ENSP00000501911.1:p.Glu174Val
ENST00000243578.7:c.521A>T (B9D2)	ENSP00000243578.2:p.Glu174Val
ENST00000539627.5:c.-30+3505T>A (TMEM91)	ENSP00000441900.1:n.-30+3505T>A
ENST00000594416.1:c.*367A>T (B9D2)	ENSP00000469666.1:n.*367A>T
ENST00000604123.5:c.142+392T>A (TMEM91)	ENSP00000474871.1:n.142+392T>A
ENST00000604424.1:n.350+3505T>A
NM_030578.3:c.521A>T (B9D2)	NP_085055.2:p.Glu174Val
XM_006723405.1:c.395A>T (B9D2)	XP_006723468.1:p.Glu132Val
XM_011527349.1:c.521A>T (B9D2)	XP_011525651.1:p.Glu174Val
XM_011527350.1:c.362A>T (B9D2)	XP_011525652.1:p.Glu121Val
XM_011527349.2:c.521A>T (B9D2)	XP_011525651.1:p.Glu174Val
XM_011527350.2:c.362A>T (B9D2)	XP_011525652.1:p.Glu121Val
NM_030578.4:c.521A>T (B9D2) MANE Select	NP_085055.2:p.Glu174Val