Canonical Allele Identifier: CA405950375

Gene: SNRPA

Linked Data

• ClinVar Variation Id: 446205
• ClinVar RCV Id: RCV000515464
• dbSNP Id: rs1555775209
• MyVariant Identifiers: chr19:g.41263263T>A (hg19) ; chr19:g.40757358T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40757358T>A , CM000681.2:g.40757358T>A	GRCh38
NC_000019.9:g.41263263T>A , CM000681.1:g.41263263T>A	GRCh37
NC_000019.8:g.45955103T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243563.8:c.100T>A MANE Select	ENSP00000243563.2:p.Phe34Ile
ENST00000243563.7:c.100T>A	ENSP00000243563.2:p.Phe34Ile
ENST00000597353.5:c.100T>A	ENSP00000472449.1:p.Phe34Ile
ENST00000598452.1:n.323T>A
ENST00000598923.1:n.235T>A
ENST00000599362.5:c.100T>A	ENSP00000472258.1:p.Phe34Ile
ENST00000599570.5:n.608-9T>A
ENST00000600456.1:c.100T>A	ENSP00000471230.1:p.Phe34Ile
ENST00000601253.5:c.100T>A	ENSP00000469224.1:p.Phe34Ile
ENST00000601393.1:c.100T>A	ENSP00000472355.1:p.Phe34Ile
ENST00000601545.5:c.-51T>A	ENSP00000470534.1:n.-51T>A
NM_004596.4:c.100T>A	NP_004587.1:p.Phe34Ile
NM_004596.5:c.100T>A MANE Select	NP_004587.1:p.Phe34Ile