Canonical Allele Identifier: CA213394
Gene: NEU1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 218331
ClinVar RCV Id: RCV000202579
dbSNP Id: rs864309513

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861452T>C , CM000668.2:g.31861452T>C GRCh38
NC_000006.11:g.31829229T>C , CM000668.1:g.31829229T>C GRCh37
NC_000006.10:g.31937208T>C NCBI36
NG_008201.1:g.6481A>G
NG_023058.1:g.22595A>G

Transcript Alleles

HGVS Amino-acid change
NM_000434.3:c.353-2A>G VV NP_000425.1:p.=
ENST00000375631.4:c.353-2A>G ENSP00000364782.4:p.=
ENST00000480384.1:n.382-2A>G
ENST00000491768.5:c.353-2A>G ENSP00000433127.1:p.=
ENST00000495807.1:n.919A>G