Canonical Allele Identifier: CA115558
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2443
ClinVar RCV Id: RCV000002547
dbSNP Id: rs104893971

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859838C>A , CM000668.2:g.31859838C>A GRCh38
NC_000006.11:g.31827615C>A , CM000668.1:g.31827615C>A GRCh37
NC_000006.10:g.31935594C>A NCBI36
NG_008201.1:g.8095G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.1129G>T MANE Select ENSP00000364782.4:p.Glu377Ter
ENST00000677054.1:n.2468G>T
ENST00000677512.1:n.1406G>T
ENST00000678869.1:n.1717G>T
ENST00000375631.4:c.1129G>T ENSP00000364782.4:p.Glu377Ter
ENST00000480384.1:n.1428G>T
ENST00000491768.5:c.*239G>T ENSP00000433127.1:n.*239G>T
ENST00000495807.1:n.2437G>T
NM_000434.3:c.1129G>T NP_000425.1:p.Glu377Ter
NM_000434.4:c.1129G>T MANE Select NP_000425.1:p.Glu377Ter