Canonical Allele Identifier: CA363484726
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 904516
ClinVar RCV Id: RCV001152488
dbSNP Id: rs1762428314
gnomAD v3: 6-31859750-A-T
gnomAD v4: 6-31859750-A-T
MyVariant Identifiers: chr6:g.31827527A>T (hg19) chr6:g.31859750A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859750A>T , CM000668.2:g.31859750A>T GRCh38
NC_000006.11:g.31827527A>T , CM000668.1:g.31827527A>T GRCh37
NC_000006.10:g.31935506A>T NCBI36
NG_008201.1:g.8183T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.1217T>A MANE Select ENSP00000364782.4:p.Val406Glu
ENST00000677054.1:n.2556T>A
ENST00000677512.1:n.1494T>A
ENST00000678869.1:n.1805T>A
ENST00000375631.4:c.1217T>A ENSP00000364782.4:p.Val406Glu
ENST00000480384.1:n.1516T>A
ENST00000491768.5:c.*327T>A ENSP00000433127.1:n.*327T>A
ENST00000495807.1:n.2525T>A
NM_000434.3:c.1217T>A NP_000425.1:p.Val406Glu
NM_000434.4:c.1217T>A MANE Select NP_000425.1:p.Val406Glu
Search 100 bp 5'
Search 100 bp 3'