Canonical Allele Identifier: CA633168697

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1468729509
• gnomAD v2: 19-41869969-C-G
• gnomAD v3: 19-41364064-C-G
• gnomAD v4: 19-41364064-C-G
• MyVariant Identifiers: chr19:g.41869969C>G (hg19) ; chr19:g.41364064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41364064C>G , CM000681.2:g.41364064C>G	GRCh38
NC_000019.9:g.41869969C>G , CM000681.1:g.41869969C>G	GRCh37
NC_000019.8:g.46561809C>G	NCBI36
NG_013091.1:g.5110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-111G>C (B9D2) MANE Select	ENSP00000243578.2:n.-111G>C
ENST00000243578.7:c.-111G>C (B9D2)	ENSP00000243578.2:n.-111G>C
ENST00000413014.6:c.-61C>G (TMEM91)	ENSP00000413192.2:n.-61C>G
ENST00000539627.5:c.-30+12862C>G (TMEM91)	ENSP00000441900.1:n.-30+12862C>G
ENST00000594416.1:c.-111G>C (B9D2)	ENSP00000469666.1:n.-111G>C
ENST00000601597.1:n.29G>C (B9D2)
ENST00000604123.5:c.142+9749C>G (TMEM91)	ENSP00000474871.1:n.142+9749C>G
ENST00000604424.1:n.350+12862C>G
NM_001098825.1:c.-61C>G (TMEM91)	NP_001092295.1:n.-61C>G
NM_030578.3:c.-111G>C (B9D2)	NP_085055.2:n.-111G>C
XM_006723405.1:c.-111G>C (B9D2)	XP_006723468.1:n.-111G>C
XM_011527350.1:c.-178G>C (B9D2)	XP_011525652.1:n.-178G>C
XM_011527350.2:c.-178G>C (B9D2)	XP_011525652.1:n.-178G>C
NM_030578.4:c.-111G>C (B9D2) MANE Select	NP_085055.2:n.-111G>C
NM_001369864.1:c.-318C>G (TMEM91)	NP_001356793.1:n.-318C>G
NM_001098825.2:c.-61C>G (TMEM91)	NP_001092295.1:n.-61C>G