Canonical Allele Identifier: CA9460385

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs776841750
• ExAC: 19:41869348 C / T
• gnomAD v2: 19-41869348-C-T
• gnomAD v4: 19-41363443-C-T
• MyVariant Identifiers: chr19:g.41869348C>T (hg19) ; chr19:g.41363443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363443C>T , CM000681.2:g.41363443C>T	GRCh38
NC_000019.9:g.41869348C>T , CM000681.1:g.41869348C>T	GRCh37
NC_000019.8:g.46561188C>T	NCBI36
NG_013091.1:g.5731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.77G>A (B9D2) MANE Select	ENSP00000243578.2:p.Gly26Asp
ENST00000675972.1:c.77G>A (B9D2)	ENSP00000501911.1:p.Gly26Asp
ENST00000243578.7:c.77G>A (B9D2)	ENSP00000243578.2:p.Gly26Asp
ENST00000539627.5:c.-30+12241C>T (TMEM91)	ENSP00000441900.1:n.-30+12241C>T
ENST00000594416.1:c.77G>A (B9D2)	ENSP00000469666.1:p.Gly26Asp
ENST00000601597.1:n.216G>A (B9D2)
ENST00000604123.5:c.142+9128C>T (TMEM91)	ENSP00000474871.1:n.142+9128C>T
ENST00000604424.1:n.350+12241C>T
NM_030578.3:c.77G>A (B9D2)	NP_085055.2:p.Gly26Asp
XM_006723405.1:c.77G>A (B9D2)	XP_006723468.1:p.Gly26Asp
XM_011527349.1:c.77G>A (B9D2)	XP_011525651.1:p.Gly26Asp
XM_011527350.1:c.-72+515G>A (B9D2)	XP_011525652.1:n.-72+515G>A
XM_011527349.2:c.77G>A (B9D2)	XP_011525651.1:p.Gly26Asp
XM_011527350.2:c.-72+515G>A (B9D2)	XP_011525652.1:n.-72+515G>A
NM_030578.4:c.77G>A (B9D2) MANE Select	NP_085055.2:p.Gly26Asp