Canonical Allele Identifier: CA10621859
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 356225
ClinVar RCV Id: RCV000340930
dbSNP Id: rs886061286
gnomAD v2: 6-31826972-G-A
gnomAD v3: 6-31859195-G-A
gnomAD v4: 6-31859195-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859195G>A , CM000668.2:g.31859195G>A GRCh38
NC_000006.11:g.31826972G>A , CM000668.1:g.31826972G>A GRCh37
NC_000006.10:g.31934951G>A NCBI36
NG_008201.1:g.8738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.*524C>T MANE Select ENSP00000364782.4:n.*524C>T
ENST00000375631.4:c.*524C>T ENSP00000364782.4:n.*524C>T
ENST00000480384.1:n.2071C>T
ENST00000491768.5:c.*882C>T ENSP00000433127.1:n.*882C>T
ENST00000495807.1:n.3080C>T
NM_000434.3:c.*524C>T NP_000425.1:n.*524C>T
NM_000434.4:c.*524C>T MANE Select NP_000425.1:n.*524C>T