Canonical Allele Identifier: CA136925156
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs116392372
gnomAD v2: 6-31827421-A-G
gnomAD v3: 6-31859644-A-G
gnomAD v4: 6-31859644-A-G
MyVariant Identifiers: chr6:g.31827421A>G (hg19) chr6:g.31859644A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859644A>G , CM000668.2:g.31859644A>G GRCh38
NC_000006.11:g.31827421A>G , CM000668.1:g.31827421A>G GRCh37
NC_000006.10:g.31935400A>G NCBI36
NG_008201.1:g.8289T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.*75T>C MANE Select ENSP00000364782.4:n.*75T>C
ENST00000677054.1:n.2662T>C
ENST00000677512.1:n.1600T>C
ENST00000678869.1:n.1911T>C
ENST00000375631.4:c.*75T>C ENSP00000364782.4:n.*75T>C
ENST00000480384.1:n.1622T>C
ENST00000491768.5:c.*433T>C ENSP00000433127.1:n.*433T>C
ENST00000495807.1:n.2631T>C
NM_000434.3:c.*75T>C NP_000425.1:n.*75T>C
NM_000434.4:c.*75T>C MANE Select NP_000425.1:n.*75T>C
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