Canonical Allele Identifier: CA136925179
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs3130678
gnomAD v2: 6-31827440-C-T
gnomAD v3: 6-31859663-C-T
gnomAD v4: 6-31859663-C-T
MyVariant Identifiers: chr6:g.31827440C>T (hg19) chr6:g.31859663C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859663C>T , CM000668.2:g.31859663C>T GRCh38
NC_000006.11:g.31827440C>T , CM000668.1:g.31827440C>T GRCh37
NC_000006.10:g.31935419C>T NCBI36
NG_008201.1:g.8270G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375631.5:c.*56G>A MANE Select ENSP00000364782.4:n.*56G>A
ENST00000677054.1:n.2643G>A
ENST00000677512.1:n.1581G>A
ENST00000678869.1:n.1892G>A
ENST00000375631.4:c.*56G>A ENSP00000364782.4:n.*56G>A
ENST00000480384.1:n.1603G>A
ENST00000491768.5:c.*414G>A ENSP00000433127.1:n.*414G>A
ENST00000495807.1:n.2612G>A
NM_000434.3:c.*56G>A NP_000425.1:n.*56G>A
NM_000434.4:c.*56G>A MANE Select NP_000425.1:n.*56G>A
Search 100 bp 5'
Search 100 bp 3'