Canonical Allele Identifier: CA406007542

Gene: B9D2 TMEM91

Linked Data

• MyVariant Identifiers: chr19:g.41860606C>A (hg19) ; chr19:g.41354701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354701C>A , CM000681.2:g.41354701C>A	GRCh38
NC_000019.9:g.41860606C>A , CM000681.1:g.41860606C>A	GRCh37
NC_000019.8:g.46552446C>A	NCBI36
NG_013091.1:g.14473G>T
NG_013364.1:g.4226G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.527G>T (B9D2) MANE Select	ENSP00000243578.2:p.Ter176Leu
ENST00000675972.1:c.527G>T (B9D2)	ENSP00000501911.1:p.Ter176Leu
ENST00000243578.7:c.527G>T (B9D2)	ENSP00000243578.2:p.Ter176Leu
ENST00000539627.5:c.-30+3499C>A (TMEM91)	ENSP00000441900.1:n.-30+3499C>A
ENST00000594416.1:c.*373G>T (B9D2)	ENSP00000469666.1:n.*373G>T
ENST00000604123.5:c.142+386C>A (TMEM91)	ENSP00000474871.1:n.142+386C>A
ENST00000604424.1:n.350+3499C>A
NM_030578.3:c.527G>T (B9D2)	NP_085055.2:p.Ter176Leu
XM_006723405.1:c.401G>T (B9D2)	XP_006723468.1:p.Ter134Leu
XM_011527349.1:c.527G>T (B9D2)	XP_011525651.1:p.Ter176Leu
XM_011527350.1:c.368G>T (B9D2)	XP_011525652.1:p.Ter123Leu
XM_011527349.2:c.527G>T (B9D2)	XP_011525651.1:p.Ter176Leu
XM_011527350.2:c.368G>T (B9D2)	XP_011525652.1:p.Ter123Leu
NM_030578.4:c.527G>T (B9D2) MANE Select	NP_085055.2:p.Ter176Leu