Canonical Allele Identifier: CA3724874
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 356230
dbSNP Id: rs150864071
gnomAD v2: 6-31827637-G-T
gnomAD v3: 6-31859860-G-T
gnomAD v4: 6-31859860-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859860G>T , CM000668.2:g.31859860G>T GRCh38
NC_000006.11:g.31827637G>T , CM000668.1:g.31827637G>T GRCh37
NC_000006.10:g.31935616G>T NCBI36
NG_008201.1:g.8073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.1107C>A MANE Select ENSP00000364782.4:p.Gly369=
ENST00000677054.1:n.2446C>A
ENST00000677512.1:n.1384C>A
ENST00000678869.1:n.1695C>A
ENST00000375631.4:c.1107C>A ENSP00000364782.4:p.Gly369=
ENST00000480384.1:n.1406C>A
ENST00000491768.5:c.*217C>A ENSP00000433127.1:n.*217C>A
ENST00000495807.1:n.2415C>A
NM_000434.3:c.1107C>A NP_000425.1:p.Gly369=
NM_000434.4:c.1107C>A MANE Select NP_000425.1:p.Gly369=