Canonical Allele Identifier: CA308458130

Gene: SNRPA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40759570G>T , CM000681.2:g.40759570G>T	GRCh38
NC_000019.9:g.41265475G>T , CM000681.1:g.41265475G>T	GRCh37
NC_000019.8:g.45957315G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243563.8:c.386G>T MANE Select	ENSP00000243563.2:p.Gly129Val
ENST00000243563.7:c.386G>T	ENSP00000243563.2:p.Gly129Val
ENST00000597353.5:c.386G>T	ENSP00000472449.1:p.Gly129Val
ENST00000598452.1:n.609G>T
ENST00000598923.1:n.521G>T
ENST00000599362.5:c.386G>T	ENSP00000472258.1:p.Gly129Val
ENST00000599570.5:n.885G>T
ENST00000600456.1:c.*208G>T	ENSP00000471230.1:n.*208G>T
ENST00000601253.5:c.377G>T	ENSP00000469224.1:p.Gly126Val
ENST00000601393.1:c.323G>T	ENSP00000472355.1:p.Gly108Val
ENST00000601545.5:c.236G>T	ENSP00000470534.1:p.Gly79Val
NM_004596.4:c.386G>T	NP_004587.1:p.Gly129Val
NM_004596.5:c.386G>T MANE Select	NP_004587.1:p.Gly129Val