Canonical Allele Identifier: CA363728134
Gene: SNRPC HGNC NCBI

Linked Data

gnomAD v4: 6-34762696-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34762696C>A , CM000668.2:g.34762696C>A GRCh38
NC_000006.11:g.34730473C>A , CM000668.1:g.34730473C>A GRCh37
NC_000006.10:g.34838451C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244520.10:c.153C>A MANE Select ENSP00000244520.5:p.Asp51Glu
ENST00000244520.9:c.153C>A ENSP00000244520.5:p.Asp51Glu
ENST00000374017.3:c.216C>A ENSP00000363129.3:p.Asp72Glu
ENST00000374018.5:c.30C>A ENSP00000363130.1:p.Asp10Glu
ENST00000474635.1:n.145C>A
NM_003093.2:c.153C>A NP_003084.1:p.Asp51Glu
NR_029472.1:n.560C>A
NM_003093.3:c.153C>A MANE Select NP_003084.1:p.Asp51Glu
NR_029472.2:n.149C>A