Canonical Allele Identifier: CA363488007
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 435973
ClinVar RCV Id: RCV000502263 RCV001067365
dbSNP Id: rs1554252319
MyVariant Identifiers: chr6:g.31827906C>T (hg19) chr6:g.31860129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31860129C>T , CM000668.2:g.31860129C>T GRCh38
NC_000006.11:g.31827906C>T , CM000668.1:g.31827906C>T GRCh37
NC_000006.10:g.31935885C>T NCBI36
NG_008201.1:g.7804G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375631.5:c.934G>A MANE Select ENSP00000364782.4:p.Glu312Lys
ENST00000677054.1:n.2177G>A
ENST00000677512.1:n.1216G>A
ENST00000678869.1:n.1522G>A
ENST00000375631.4:c.934G>A ENSP00000364782.4:p.Glu312Lys
ENST00000480384.1:n.1137G>A
ENST00000491768.5:c.*44G>A ENSP00000433127.1:n.*44G>A
ENST00000495807.1:n.2242G>A
NM_000434.3:c.934G>A NP_000425.1:p.Glu312Lys
NM_000434.4:c.934G>A MANE Select NP_000425.1:p.Glu312Lys
Search 100 bp 5'
Search 100 bp 3'