Canonical Allele Identifier: CA449808601
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2904329
ClinVar RCV Id: RCV003729263
dbSNP Id: rs1408842455
gnomAD v2: 6-31829175-A-G
gnomAD v3: 6-31861398-A-G
gnomAD v4: 6-31861398-A-G
MyVariant Identifiers: chr6:g.31829175A>G (hg19) chr6:g.31861398A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861398A>G , CM000668.2:g.31861398A>G GRCh38
NC_000006.11:g.31829175A>G , CM000668.1:g.31829175A>G GRCh37
NC_000006.10:g.31937154A>G NCBI36
NG_008201.1:g.6535T>C
NG_023058.1:g.22649T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.405T>C MANE Select ENSP00000364782.4:p.Asp135=
ENST00000677054.1:n.1082T>C
ENST00000677512.1:n.513T>C
ENST00000678869.1:n.513T>C
ENST00000375631.4:c.405T>C ENSP00000364782.4:p.Asp135=
ENST00000480384.1:n.434T>C
ENST00000491768.5:c.405T>C ENSP00000433127.1:p.Asp135=
ENST00000495807.1:n.973T>C
NM_000434.3:c.405T>C NP_000425.1:p.Asp135=
NM_000434.4:c.405T>C MANE Select NP_000425.1:p.Asp135=
Search 100 bp 5'
Search 100 bp 3'