Canonical Allele Identifier: CA2585298982

Gene: B9D2 TMEM91

Linked Data

• gnomAD v4: 19-41354582-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354582C>G , CM000681.2:g.41354582C>G	GRCh38
NC_000019.9:g.41860487C>G , CM000681.1:g.41860487C>G	GRCh37
NC_000019.8:g.46552327C>G	NCBI36
NG_013091.1:g.14592G>C
NG_013364.1:g.4345G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.*118G>C (B9D2) MANE Select	ENSP00000243578.2:n.*118G>C
ENST00000675972.1:c.*118G>C (B9D2)	ENSP00000501911.1:n.*118G>C
ENST00000243578.7:c.*118G>C (B9D2)	ENSP00000243578.2:n.*118G>C
ENST00000539627.5:c.-30+3380C>G (TMEM91)	ENSP00000441900.1:n.-30+3380C>G
ENST00000604123.5:c.142+267C>G (TMEM91)	ENSP00000474871.1:n.142+267C>G
ENST00000604424.1:n.350+3380C>G
NM_030578.3:c.*118G>C (B9D2)	NP_085055.2:n.*118G>C
XM_006723405.1:c.*118G>C (B9D2)	XP_006723468.1:n.*118G>C
XM_011527349.1:c.*118G>C (B9D2)	XP_011525651.1:n.*118G>C
XM_011527350.1:c.*118G>C (B9D2)	XP_011525652.1:n.*118G>C
XM_011527349.2:c.*118G>C (B9D2)	XP_011525651.1:n.*118G>C
XM_011527350.2:c.*118G>C (B9D2)	XP_011525652.1:n.*118G>C
NM_030578.4:c.*118G>C (B9D2) MANE Select	NP_085055.2:n.*118G>C