Canonical Allele Identifier: CA9460403

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs748449016
• ExAC: 19:41869450 C / T
• gnomAD v2: 19-41869450-C-T
• gnomAD v3: 19-41363545-C-T
• gnomAD v4: 19-41363545-C-T
• MyVariant Identifiers: chr19:g.41869450C>T (hg19) ; chr19:g.41363545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363545C>T , CM000681.2:g.41363545C>T	GRCh38
NC_000019.9:g.41869450C>T , CM000681.1:g.41869450C>T	GRCh37
NC_000019.8:g.46561290C>T	NCBI36
NG_013091.1:g.5629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-4-22G>A (B9D2) MANE Select	ENSP00000243578.2:n.-4-22G>A
ENST00000675972.1:c.-4-22G>A (B9D2)	ENSP00000501911.1:n.-4-22G>A
ENST00000243578.7:c.-4-22G>A (B9D2)	ENSP00000243578.2:n.-4-22G>A
ENST00000539627.5:c.-30+12343C>T (TMEM91)	ENSP00000441900.1:n.-30+12343C>T
ENST00000594416.1:c.-4-22G>A (B9D2)	ENSP00000469666.1:n.-4-22G>A
ENST00000601597.1:n.136-22G>A (B9D2)
ENST00000604123.5:c.142+9230C>T (TMEM91)	ENSP00000474871.1:n.142+9230C>T
ENST00000604424.1:n.350+12343C>T
NM_030578.3:c.-4-22G>A (B9D2)	NP_085055.2:n.-4-22G>A
XM_006723405.1:c.-4-22G>A (B9D2)	XP_006723468.1:n.-4-22G>A
XM_011527349.1:c.-4-22G>A (B9D2)	XP_011525651.1:n.-4-22G>A
XM_011527350.1:c.-72+413G>A (B9D2)	XP_011525652.1:n.-72+413G>A
XM_011527349.2:c.-4-22G>A (B9D2)	XP_011525651.1:n.-4-22G>A
XM_011527350.2:c.-72+413G>A (B9D2)	XP_011525652.1:n.-72+413G>A
NM_030578.4:c.-4-22G>A (B9D2) MANE Select	NP_085055.2:n.-4-22G>A