Canonical Allele Identifier: CA2678053421
Gene: NEU1 HGNC NCBI

Linked Data

gnomAD v4: 6-31859962-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859962A>G , CM000668.2:g.31859962A>G GRCh38
NC_000006.11:g.31827739A>G , CM000668.1:g.31827739A>G GRCh37
NC_000006.10:g.31935718A>G NCBI36
NG_008201.1:g.7971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.1022-17T>C MANE Select ENSP00000364782.4:n.1022-17T>C
ENST00000677054.1:n.2344T>C
ENST00000677512.1:n.1299-17T>C
ENST00000678869.1:n.1610-17T>C
ENST00000375631.4:c.1022-17T>C ENSP00000364782.4:n.1022-17T>C
ENST00000480384.1:n.1304T>C
ENST00000491768.5:c.*132-17T>C ENSP00000433127.1:n.*132-17T>C
ENST00000495807.1:n.2330-17T>C
NM_000434.3:c.1022-17T>C NP_000425.1:n.1022-17T>C
NM_000434.4:c.1022-17T>C MANE Select NP_000425.1:n.1022-17T>C
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