Canonical Allele Identifier: CA406007563

Gene: B9D2 TMEM91

Linked Data

• MyVariant Identifiers: chr19:g.41860610A>C (hg19) ; chr19:g.41354705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354705A>C , CM000681.2:g.41354705A>C	GRCh38
NC_000019.9:g.41860610A>C , CM000681.1:g.41860610A>C	GRCh37
NC_000019.8:g.46552450A>C	NCBI36
NG_013091.1:g.14469T>G
NG_013364.1:g.4222T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.523T>G (B9D2) MANE Select	ENSP00000243578.2:p.Cys175Gly
ENST00000675972.1:c.523T>G (B9D2)	ENSP00000501911.1:p.Cys175Gly
ENST00000243578.7:c.523T>G (B9D2)	ENSP00000243578.2:p.Cys175Gly
ENST00000539627.5:c.-30+3503A>C (TMEM91)	ENSP00000441900.1:n.-30+3503A>C
ENST00000594416.1:c.*369T>G (B9D2)	ENSP00000469666.1:n.*369T>G
ENST00000604123.5:c.142+390A>C (TMEM91)	ENSP00000474871.1:n.142+390A>C
ENST00000604424.1:n.350+3503A>C
NM_030578.3:c.523T>G (B9D2)	NP_085055.2:p.Cys175Gly
XM_006723405.1:c.397T>G (B9D2)	XP_006723468.1:p.Cys133Gly
XM_011527349.1:c.523T>G (B9D2)	XP_011525651.1:p.Cys175Gly
XM_011527350.1:c.364T>G (B9D2)	XP_011525652.1:p.Cys122Gly
XM_011527349.2:c.523T>G (B9D2)	XP_011525651.1:p.Cys175Gly
XM_011527350.2:c.364T>G (B9D2)	XP_011525652.1:p.Cys122Gly
NM_030578.4:c.523T>G (B9D2) MANE Select	NP_085055.2:p.Cys175Gly