Canonical Allele Identifier: CA363494956
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366801
ClinVar RCV Id: RCV001944857
dbSNP Id: rs2151545620
gnomAD v4: 6-31861400-C-T
COSMIC: COSM5107655
MyVariant Identifiers: chr6:g.31829177C>T (hg19) chr6:g.31861400C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861400C>T , CM000668.2:g.31861400C>T GRCh38
NC_000006.11:g.31829177C>T , CM000668.1:g.31829177C>T GRCh37
NC_000006.10:g.31937156C>T NCBI36
NG_008201.1:g.6533G>A
NG_023058.1:g.22647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.403G>A MANE Select ENSP00000364782.4:p.Asp135Asn
ENST00000677054.1:n.1080G>A
ENST00000677512.1:n.511G>A
ENST00000678869.1:n.511G>A
ENST00000375631.4:c.403G>A ENSP00000364782.4:p.Asp135Asn
ENST00000480384.1:n.432G>A
ENST00000491768.5:c.403G>A ENSP00000433127.1:p.Asp135Asn
ENST00000495807.1:n.971G>A
NM_000434.3:c.403G>A NP_000425.1:p.Asp135Asn
NM_000434.4:c.403G>A MANE Select NP_000425.1:p.Asp135Asn
Search 100 bp 5'
Search 100 bp 3'