Canonical Allele Identifier: CA3766140
Gene: SNRPC HGNC NCBI

Linked Data

dbSNP Id: rs550883072
ExAC: 6:34730440 A / G
gnomAD v2: 6-34730440-A-G
gnomAD v3: 6-34762663-A-G
gnomAD v4: 6-34762663-A-G
MyVariant Identifiers: chr6:g.34730440A>G (hg19) chr6:g.34762663A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34762663A>G , CM000668.2:g.34762663A>G GRCh38
NC_000006.11:g.34730440A>G , CM000668.1:g.34730440A>G GRCh37
NC_000006.10:g.34838418A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244520.10:c.120A>G MANE Select ENSP00000244520.5:p.Lys40=
ENST00000244520.9:c.120A>G ENSP00000244520.5:p.Lys40=
ENST00000374017.3:c.183A>G ENSP00000363129.3:p.Lys61=
ENST00000374018.5:c.-4A>G ENSP00000363130.1:n.-4A>G
ENST00000474635.1:n.112A>G
NM_003093.2:c.120A>G NP_003084.1:p.Lys40=
NR_029472.1:n.527A>G
NM_003093.3:c.120A>G MANE Select NP_003084.1:p.Lys40=
NR_029472.2:n.116A>G
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