Canonical Allele Identifier: CA406009429

Gene: B9D2 TMEM91

Linked Data

• MyVariant Identifiers: chr19:g.41860913G>C (hg19) ; chr19:g.41355008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355008G>C , CM000681.2:g.41355008G>C	GRCh38
NC_000019.9:g.41860913G>C , CM000681.1:g.41860913G>C	GRCh37
NC_000019.8:g.46552753G>C	NCBI36
NG_013091.1:g.14166C>G
NG_013364.1:g.3919C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.220C>G (B9D2) MANE Select	ENSP00000243578.2:p.Pro74Ala
ENST00000675972.1:c.220C>G (B9D2)	ENSP00000501911.1:p.Pro74Ala
ENST00000243578.7:c.220C>G (B9D2)	ENSP00000243578.2:p.Pro74Ala
ENST00000539627.5:c.-30+3806G>C (TMEM91)	ENSP00000441900.1:n.-30+3806G>C
ENST00000594416.1:c.*66C>G (B9D2)	ENSP00000469666.1:n.*66C>G
ENST00000604123.5:c.142+693G>C (TMEM91)	ENSP00000474871.1:n.142+693G>C
ENST00000604424.1:n.350+3806G>C
NM_030578.3:c.220C>G (B9D2)	NP_085055.2:p.Pro74Ala
XM_006723405.1:c.94C>G (B9D2)	XP_006723468.1:p.Pro32Ala
XM_011527349.1:c.220C>G (B9D2)	XP_011525651.1:p.Pro74Ala
XM_011527350.1:c.61C>G (B9D2)	XP_011525652.1:p.Pro21Ala
XM_011527349.2:c.220C>G (B9D2)	XP_011525651.1:p.Pro74Ala
XM_011527350.2:c.61C>G (B9D2)	XP_011525652.1:p.Pro21Ala
NM_030578.4:c.220C>G (B9D2) MANE Select	NP_085055.2:p.Pro74Ala