Canonical Allele Identifier: CA1087498341
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs1762513181
gnomAD v3: 6-31861524-C-T
gnomAD v4: 6-31861524-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861524C>T , CM000668.2:g.31861524C>T GRCh38
NC_000006.11:g.31829301C>T , CM000668.1:g.31829301C>T GRCh37
NC_000006.10:g.31937280C>T NCBI36
NG_008201.1:g.6409G>A
NG_023058.1:g.22523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.353-74G>A MANE Select ENSP00000364782.4:n.353-74G>A
ENST00000677054.1:n.956G>A
ENST00000677512.1:n.461-74G>A
ENST00000678869.1:n.461-74G>A
ENST00000375631.4:c.353-74G>A ENSP00000364782.4:n.353-74G>A
ENST00000480384.1:n.382-74G>A
ENST00000491768.5:c.353-74G>A ENSP00000433127.1:n.353-74G>A
ENST00000495807.1:n.847G>A
NM_000434.3:c.353-74G>A NP_000425.1:n.353-74G>A
NM_000434.4:c.353-74G>A MANE Select NP_000425.1:n.353-74G>A