Canonical Allele Identifier: CA308527484

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs184521141
• gnomAD v3: 19-41363970-A-C
• gnomAD v4: 19-41363970-A-C
• MyVariant Identifiers: chr19:g.41869875A>C (hg19) ; chr19:g.41363970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363970A>C , CM000681.2:g.41363970A>C	GRCh38
NC_000019.9:g.41869875A>C , CM000681.1:g.41869875A>C	GRCh37
NC_000019.8:g.46561715A>C	NCBI36
NG_013091.1:g.5204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-17T>G (B9D2) MANE Select	ENSP00000243578.2:n.-17T>G
ENST00000243578.7:c.-17T>G (B9D2)	ENSP00000243578.2:n.-17T>G
ENST00000539627.5:c.-30+12768A>C (TMEM91)	ENSP00000441900.1:n.-30+12768A>C
ENST00000594416.1:c.-17T>G (B9D2)	ENSP00000469666.1:n.-17T>G
ENST00000601597.1:n.123T>G (B9D2)
ENST00000604123.5:c.142+9655A>C (TMEM91)	ENSP00000474871.1:n.142+9655A>C
ENST00000604424.1:n.350+12768A>C
NM_001098825.1:c.-155A>C (TMEM91)	NP_001092295.1:n.-155A>C
NM_030578.3:c.-17T>G (B9D2)	NP_085055.2:n.-17T>G
XM_006723405.1:c.-17T>G (B9D2)	XP_006723468.1:n.-17T>G
XM_011527350.1:c.-84T>G (B9D2)	XP_011525652.1:n.-84T>G
XM_011527350.2:c.-84T>G (B9D2)	XP_011525652.1:n.-84T>G
NM_030578.4:c.-17T>G (B9D2) MANE Select	NP_085055.2:n.-17T>G
NM_001369864.1:c.-412A>C (TMEM91)	NP_001356793.1:n.-412A>C
NM_001098825.2:c.-155A>C (TMEM91)	NP_001092295.1:n.-155A>C