Canonical Allele Identifier: CA363727962
Gene: SNRPC HGNC NCBI

Linked Data

gnomAD v4: 6-34762629-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34762629A>G , CM000668.2:g.34762629A>G GRCh38
NC_000006.11:g.34730406A>G , CM000668.1:g.34730406A>G GRCh37
NC_000006.10:g.34838384A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000244520.10:c.86A>G MANE Select ENSP00000244520.5:p.Lys29Arg
ENST00000244520.9:c.86A>G ENSP00000244520.5:p.Lys29Arg
ENST00000374017.3:c.149A>G ENSP00000363129.3:p.Lys50Arg
ENST00000374018.5:c.-38A>G ENSP00000363130.1:n.-38A>G
ENST00000474635.1:n.78A>G
NM_003093.2:c.86A>G NP_003084.1:p.Lys29Arg
NR_029472.1:n.493A>G
NM_003093.3:c.86A>G MANE Select NP_003084.1:p.Lys29Arg
NR_029472.2:n.82A>G