Canonical Allele Identifier: CA1087498343
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs1762513308
gnomAD v3: 6-31861529-C-T
gnomAD v4: 6-31861529-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861529C>T , CM000668.2:g.31861529C>T GRCh38
NC_000006.11:g.31829306C>T , CM000668.1:g.31829306C>T GRCh37
NC_000006.10:g.31937285C>T NCBI36
NG_008201.1:g.6404G>A
NG_023058.1:g.22518G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.353-79G>A MANE Select ENSP00000364782.4:n.353-79G>A
ENST00000677054.1:n.951G>A
ENST00000677512.1:n.461-79G>A
ENST00000678869.1:n.461-79G>A
ENST00000375631.4:c.353-79G>A ENSP00000364782.4:n.353-79G>A
ENST00000480384.1:n.382-79G>A
ENST00000491768.5:c.353-79G>A ENSP00000433127.1:n.353-79G>A
ENST00000495807.1:n.842G>A
NM_000434.3:c.353-79G>A NP_000425.1:n.353-79G>A
NM_000434.4:c.353-79G>A MANE Select NP_000425.1:n.353-79G>A
Search 100 bp 5'
Search 100 bp 3'