Canonical Allele Identifier: CA1139659469
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 904515
ClinVar RCV Id: RCV001152487
dbSNP Id: rs1762424496
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859650C>T , CM000668.2:g.31859650C>T GRCh38
NC_000006.11:g.31827427C>T , CM000668.1:g.31827427C>T GRCh37
NC_000006.10:g.31935406C>T NCBI36
NG_008201.1:g.8283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.*69G>A MANE Select ENSP00000364782.4:n.*69G>A
ENST00000677054.1:n.2656G>A
ENST00000677512.1:n.1594G>A
ENST00000678869.1:n.1905G>A
ENST00000375631.4:c.*69G>A ENSP00000364782.4:n.*69G>A
ENST00000480384.1:n.1616G>A
ENST00000491768.5:c.*427G>A ENSP00000433127.1:n.*427G>A
ENST00000495807.1:n.2625G>A
NM_000434.3:c.*69G>A NP_000425.1:n.*69G>A
NM_000434.4:c.*69G>A MANE Select NP_000425.1:n.*69G>A
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