Canonical Allele Identifier: CA363728079

Gene: SNRPC

Linked Data

• gnomAD v4: 6-34762673-G-T
• MyVariant Identifiers: chr6:g.34730450G>T (hg19) ; chr6:g.34762673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.34762673G>T , CM000668.2:g.34762673G>T	GRCh38
NC_000006.11:g.34730450G>T , CM000668.1:g.34730450G>T	GRCh37
NC_000006.10:g.34838428G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244520.10:c.130G>T MANE Select	ENSP00000244520.5:p.Glu44Ter
ENST00000244520.9:c.130G>T	ENSP00000244520.5:p.Glu44Ter
ENST00000374017.3:c.193G>T	ENSP00000363129.3:p.Glu65Ter
ENST00000374018.5:c.7G>T	ENSP00000363130.1:p.Glu3Ter
ENST00000474635.1:n.122G>T
NM_003093.2:c.130G>T	NP_003084.1:p.Glu44Ter
NR_029472.1:n.537G>T
NM_003093.3:c.130G>T MANE Select	NP_003084.1:p.Glu44Ter
NR_029472.2:n.126G>T