Canonical Allele Identifier: CA449807897
Gene: NEU1 HGNC NCBI

Linked Data

gnomAD v4: 6-31859941-C-G
MyVariant Identifiers: chr6:g.31827718C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859941C>G , CM000668.2:g.31859941C>G GRCh38
NC_000006.11:g.31827718C>G , CM000668.1:g.31827718C>G GRCh37
NC_000006.10:g.31935697C>G NCBI36
NG_008201.1:g.7992G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375631.5:c.1026G>C MANE Select ENSP00000364782.4:p.Val342=
ENST00000677054.1:n.2365G>C
ENST00000677512.1:n.1303G>C
ENST00000678869.1:n.1614G>C
ENST00000375631.4:c.1026G>C ENSP00000364782.4:p.Val342=
ENST00000480384.1:n.1325G>C
ENST00000491768.5:c.*136G>C ENSP00000433127.1:n.*136G>C
ENST00000495807.1:n.2334G>C
NM_000434.3:c.1026G>C NP_000425.1:p.Val342=
NM_000434.4:c.1026G>C MANE Select NP_000425.1:p.Val342=
Search 100 bp 5'
Search 100 bp 3'