Canonical Allele Identifier: CA823919687
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2759032
ClinVar RCV Id: RCV003564531
dbSNP Id: rs1193984895
gnomAD v3: 6-31859960-A-G
gnomAD v4: 6-31859960-A-G
MyVariant Identifiers: chr6:g.31827737A>G (hg19) chr6:g.31859960A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859960A>G , CM000668.2:g.31859960A>G GRCh38
NC_000006.11:g.31827737A>G , CM000668.1:g.31827737A>G GRCh37
NC_000006.10:g.31935716A>G NCBI36
NG_008201.1:g.7973T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.1022-15T>C MANE Select ENSP00000364782.4:n.1022-15T>C
ENST00000677054.1:n.2346T>C
ENST00000677512.1:n.1299-15T>C
ENST00000678869.1:n.1610-15T>C
ENST00000375631.4:c.1022-15T>C ENSP00000364782.4:n.1022-15T>C
ENST00000480384.1:n.1306T>C
ENST00000491768.5:c.*132-15T>C ENSP00000433127.1:n.*132-15T>C
ENST00000495807.1:n.2330-15T>C
NM_000434.3:c.1022-15T>C NP_000425.1:n.1022-15T>C
NM_000434.4:c.1022-15T>C MANE Select NP_000425.1:n.1022-15T>C
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