Canonical Allele Identifier: CA363727967
Gene: SNRPC HGNC NCBI

Linked Data

gnomAD v4: 6-34762631-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34762631C>A , CM000668.2:g.34762631C>A GRCh38
NC_000006.11:g.34730408C>A , CM000668.1:g.34730408C>A GRCh37
NC_000006.10:g.34838386C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000244520.10:c.88C>A MANE Select ENSP00000244520.5:p.His30Asn
ENST00000244520.9:c.88C>A ENSP00000244520.5:p.His30Asn
ENST00000374017.3:c.151C>A ENSP00000363129.3:p.His51Asn
ENST00000374018.5:c.-36C>A ENSP00000363130.1:n.-36C>A
ENST00000474635.1:n.80C>A
NM_003093.2:c.88C>A NP_003084.1:p.His30Asn
NR_029472.1:n.495C>A
NM_003093.3:c.88C>A MANE Select NP_003084.1:p.His30Asn
NR_029472.2:n.84C>A