Canonical Allele Identifier: CA71988943

Gene: RBMS3

Linked Data

• dbSNP Id: rs9832625
• gnomAD v2: 3-29329020-C-G
• gnomAD v3: 3-29287529-C-G
• gnomAD v4: 3-29287529-C-G
• MyVariant Identifiers: chr3:g.29329020C>G (hg19) ; chr3:g.29287529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.29287529C>G , CM000665.2:g.29287529C>G	GRCh38
NC_000003.11:g.29329020C>G , CM000665.1:g.29329020C>G	GRCh37
NC_000003.10:g.29304024C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383767.7:c.75+5773C>G MANE Select	ENSP00000373277.2:n.75+5773C>G
ENST00000635992.1:c.*582+104400C>G	ENSP00000489994.1:n.*582+104400C>G
ENST00000636680.2:c.456+104400C>G	ENSP00000490271.2:n.456+104400C>G
ENST00000637842.1:c.322+104400C>G	ENSP00000489718.1:n.322+104400C>G
ENST00000273139.13:c.75+5773C>G	ENSP00000273139.9:n.75+5773C>G
ENST00000383766.6:c.75+5773C>G	ENSP00000373276.2:n.75+5773C>G
ENST00000383767.6:c.75+5773C>G	ENSP00000373277.2:n.75+5773C>G
ENST00000434693.6:c.75+5773C>G	ENSP00000395592.1:n.75+5773C>G
ENST00000445033.5:c.75+5773C>G	ENSP00000391934.1:n.75+5773C>G
ENST00000452462.5:c.75+5773C>G	ENSP00000397926.1:n.75+5773C>G
ENST00000456853.1:c.75+5773C>G	ENSP00000400519.1:n.75+5773C>G
ENST00000471426.1:n.574+5773C>G
NM_001003792.2:c.75+5773C>G	NP_001003792.1:n.75+5773C>G
NM_001003793.2:c.75+5773C>G	NP_001003793.1:n.75+5773C>G
NM_001177711.1:c.75+5773C>G	NP_001171182.1:n.75+5773C>G
NM_001177712.1:c.75+5773C>G	NP_001171183.1:n.75+5773C>G
NM_014483.3:c.75+5773C>G	NP_055298.2:n.75+5773C>G
XM_005265060.1:c.75+5773C>G	XP_005265117.1:n.75+5773C>G
XM_005265061.1:c.75+5773C>G	XP_005265118.1:n.75+5773C>G
XM_005265062.1:c.75+5773C>G	XP_005265119.1:n.75+5773C>G
XM_011533592.1:c.75+5773C>G	XP_011531894.1:n.75+5773C>G
XM_011533593.1:c.75+5773C>G	XP_011531895.1:n.75+5773C>G
XM_011533594.1:c.75+5773C>G	XP_011531896.1:n.75+5773C>G
NM_001330696.1:c.75+5773C>G	NP_001317625.1:n.75+5773C>G
XM_005265061.2:c.75+5773C>G	XP_005265118.1:n.75+5773C>G
XM_017006178.1:c.75+5773C>G	XP_016861667.1:n.75+5773C>G
XM_017006179.1:c.75+5773C>G	XP_016861668.1:n.75+5773C>G
XM_017006180.1:c.75+5773C>G	XP_016861669.1:n.75+5773C>G
XM_017006181.1:c.75+5773C>G	XP_016861670.1:n.75+5773C>G
XM_017006182.1:c.-104+5773C>G	XP_016861671.1:n.-104+5773C>G
XM_024453454.1:c.75+5773C>G	XP_024309222.1:n.75+5773C>G
NM_001003792.3:c.75+5773C>G	NP_001003792.1:n.75+5773C>G
NM_001003793.3:c.75+5773C>G MANE Select	NP_001003793.1:n.75+5773C>G
NM_001177711.2:c.75+5773C>G	NP_001171182.1:n.75+5773C>G
NM_001177712.2:c.75+5773C>G	NP_001171183.1:n.75+5773C>G
NM_014483.4:c.75+5773C>G	NP_055298.2:n.75+5773C>G