Canonical Allele Identifier: CA115562
Gene: NEU1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2454
ClinVar RCV Id: RCV000002558
dbSNP Id: rs104893979

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31860117G>A , CM000668.2:g.31860117G>A GRCh38
NC_000006.11:g.31827894G>A , CM000668.1:g.31827894G>A GRCh37
NC_000006.10:g.31935873G>A NCBI36
NG_008201.1:g.7816C>T

Transcript Alleles

HGVS Amino-acid change
NM_000434.3:c.946C>T VV NP_000425.1:p.Pro316Ser
ENST00000375631.4:c.946C>T ENSP00000364782.4:p.Pro316Ser
ENST00000480384.1:n.1149C>T
ENST00000491768.5:c.*56C>T ENSP00000433127.1:p.=
ENST00000495807.1:n.2254C>T