Canonical Allele Identifier: CA2585299001

Gene: B9D2 TMEM91

Linked Data

• gnomAD v4: 19-41354600-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354600C>G , CM000681.2:g.41354600C>G	GRCh38
NC_000019.9:g.41860505C>G , CM000681.1:g.41860505C>G	GRCh37
NC_000019.8:g.46552345C>G	NCBI36
NG_013091.1:g.14574G>C
NG_013364.1:g.4327G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.*100G>C (B9D2) MANE Select	ENSP00000243578.2:n.*100G>C
ENST00000675972.1:c.*100G>C (B9D2)	ENSP00000501911.1:n.*100G>C
ENST00000243578.7:c.*100G>C (B9D2)	ENSP00000243578.2:n.*100G>C
ENST00000539627.5:c.-30+3398C>G (TMEM91)	ENSP00000441900.1:n.-30+3398C>G
ENST00000604123.5:c.142+285C>G (TMEM91)	ENSP00000474871.1:n.142+285C>G
ENST00000604424.1:n.350+3398C>G
NM_030578.3:c.*100G>C (B9D2)	NP_085055.2:n.*100G>C
XM_006723405.1:c.*100G>C (B9D2)	XP_006723468.1:n.*100G>C
XM_011527349.1:c.*100G>C (B9D2)	XP_011525651.1:n.*100G>C
XM_011527350.1:c.*100G>C (B9D2)	XP_011525652.1:n.*100G>C
XM_011527349.2:c.*100G>C (B9D2)	XP_011525651.1:n.*100G>C
XM_011527350.2:c.*100G>C (B9D2)	XP_011525652.1:n.*100G>C
NM_030578.4:c.*100G>C (B9D2) MANE Select	NP_085055.2:n.*100G>C