Canonical Allele Identifier: CA363495066
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972055
ClinVar RCV Id: RCV001247990
dbSNP Id: rs1762506383
gnomAD v3: 6-31861417-T-C
gnomAD v4: 6-31861417-T-C
MyVariant Identifiers: chr6:g.31829194T>C (hg19) chr6:g.31861417T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861417T>C , CM000668.2:g.31861417T>C GRCh38
NC_000006.11:g.31829194T>C , CM000668.1:g.31829194T>C GRCh37
NC_000006.10:g.31937173T>C NCBI36
NG_008201.1:g.6516A>G
NG_023058.1:g.22630A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.386A>G MANE Select ENSP00000364782.4:p.Asn129Ser
ENST00000677054.1:n.1063A>G
ENST00000677512.1:n.494A>G
ENST00000678869.1:n.494A>G
ENST00000375631.4:c.386A>G ENSP00000364782.4:p.Asn129Ser
ENST00000480384.1:n.415A>G
ENST00000491768.5:c.386A>G ENSP00000433127.1:p.Asn129Ser
ENST00000495807.1:n.954A>G
NM_000434.3:c.386A>G NP_000425.1:p.Asn129Ser
NM_000434.4:c.386A>G MANE Select NP_000425.1:p.Asn129Ser
Search 100 bp 5'
Search 100 bp 3'