Canonical Allele Identifier: CA3766117

Gene: SNRPC

Linked Data

• dbSNP Id: rs759128187
• ExAC: 6:34730324 G / A
• gnomAD v2: 6-34730324-G-A
• MyVariant Identifiers: chr6:g.34730324G>A (hg19) ; chr6:g.34762547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.34762547G>A , CM000668.2:g.34762547G>A	GRCh38
NC_000006.11:g.34730324G>A , CM000668.1:g.34730324G>A	GRCh37
NC_000006.10:g.34838302G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244520.10:c.52-48G>A MANE Select	ENSP00000244520.5:n.52-48G>A
ENST00000244520.9:c.52-48G>A	ENSP00000244520.5:n.52-48G>A
ENST00000374017.3:c.115-48G>A	ENSP00000363129.3:n.115-48G>A
ENST00000374018.5:c.-72-48G>A	ENSP00000363130.1:n.-72-48G>A
ENST00000474635.1:n.44-48G>A
NM_003093.2:c.52-48G>A	NP_003084.1:n.52-48G>A
NR_029472.1:n.459-48G>A
NM_003093.3:c.52-48G>A MANE Select	NP_003084.1:n.52-48G>A
NR_029472.2:n.48-48G>A