Canonical Allele Identifier: CA308527503

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs983877170
• gnomAD v2: 19-41869880-T-G
• gnomAD v3: 19-41363975-T-G
• gnomAD v4: 19-41363975-T-G
• MyVariant Identifiers: chr19:g.41869880T>G (hg19) ; chr19:g.41363975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363975T>G , CM000681.2:g.41363975T>G	GRCh38
NC_000019.9:g.41869880T>G , CM000681.1:g.41869880T>G	GRCh37
NC_000019.8:g.46561720T>G	NCBI36
NG_013091.1:g.5199A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-22A>C (B9D2) MANE Select	ENSP00000243578.2:n.-22A>C
ENST00000243578.7:c.-22A>C (B9D2)	ENSP00000243578.2:n.-22A>C
ENST00000539627.5:c.-30+12773T>G (TMEM91)	ENSP00000441900.1:n.-30+12773T>G
ENST00000594416.1:c.-22A>C (B9D2)	ENSP00000469666.1:n.-22A>C
ENST00000601597.1:n.118A>C (B9D2)
ENST00000604123.5:c.142+9660T>G (TMEM91)	ENSP00000474871.1:n.142+9660T>G
ENST00000604424.1:n.350+12773T>G
NM_001098825.1:c.-150T>G (TMEM91)	NP_001092295.1:n.-150T>G
NM_030578.3:c.-22A>C (B9D2)	NP_085055.2:n.-22A>C
XM_006723405.1:c.-22A>C (B9D2)	XP_006723468.1:n.-22A>C
XM_011527350.1:c.-89A>C (B9D2)	XP_011525652.1:n.-89A>C
XM_011527350.2:c.-89A>C (B9D2)	XP_011525652.1:n.-89A>C
NM_030578.4:c.-22A>C (B9D2) MANE Select	NP_085055.2:n.-22A>C
NM_001369864.1:c.-407T>G (TMEM91)	NP_001356793.1:n.-407T>G
NM_001098825.2:c.-150T>G (TMEM91)	NP_001092295.1:n.-150T>G