Canonical Allele Identifier: CA882329552

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1168445291
• gnomAD v4: 19-41354606-G-T
• MyVariant Identifiers: chr19:g.41860511G>T (hg19) ; chr19:g.41354606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354606G>T , CM000681.2:g.41354606G>T	GRCh38
NC_000019.9:g.41860511G>T , CM000681.1:g.41860511G>T	GRCh37
NC_000019.8:g.46552351G>T	NCBI36
NG_013091.1:g.14568C>A
NG_013364.1:g.4321C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.*94C>A (B9D2) MANE Select	ENSP00000243578.2:n.*94C>A
ENST00000675972.1:c.*94C>A (B9D2)	ENSP00000501911.1:n.*94C>A
ENST00000243578.7:c.*94C>A (B9D2)	ENSP00000243578.2:n.*94C>A
ENST00000539627.5:c.-30+3404G>T (TMEM91)	ENSP00000441900.1:n.-30+3404G>T
ENST00000604123.5:c.142+291G>T (TMEM91)	ENSP00000474871.1:n.142+291G>T
ENST00000604424.1:n.350+3404G>T
NM_030578.3:c.*94C>A (B9D2)	NP_085055.2:n.*94C>A
XM_006723405.1:c.*94C>A (B9D2)	XP_006723468.1:n.*94C>A
XM_011527349.1:c.*94C>A (B9D2)	XP_011525651.1:n.*94C>A
XM_011527350.1:c.*94C>A (B9D2)	XP_011525652.1:n.*94C>A
XM_011527349.2:c.*94C>A (B9D2)	XP_011525651.1:n.*94C>A
XM_011527350.2:c.*94C>A (B9D2)	XP_011525652.1:n.*94C>A
NM_030578.4:c.*94C>A (B9D2) MANE Select	NP_085055.2:n.*94C>A