Canonical Allele Identifier: CA363727954
Gene: SNRPC HGNC NCBI

Linked Data

gnomAD v4: 6-34762626-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34762626G>A , CM000668.2:g.34762626G>A GRCh38
NC_000006.11:g.34730403G>A , CM000668.1:g.34730403G>A GRCh37
NC_000006.10:g.34838381G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000244520.10:c.83G>A MANE Select ENSP00000244520.5:p.Arg28Lys
ENST00000244520.9:c.83G>A ENSP00000244520.5:p.Arg28Lys
ENST00000374017.3:c.146G>A ENSP00000363129.3:p.Arg49Lys
ENST00000374018.5:c.-41G>A ENSP00000363130.1:n.-41G>A
ENST00000474635.1:n.75G>A
NM_003093.2:c.83G>A NP_003084.1:p.Arg28Lys
NR_029472.1:n.490G>A
NM_003093.3:c.83G>A MANE Select NP_003084.1:p.Arg28Lys
NR_029472.2:n.79G>A