Canonical Allele Identifier: CA363494135
Gene: NEU1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861265A>C , CM000668.2:g.31861265A>C GRCh38
NC_000006.11:g.31829042A>C , CM000668.1:g.31829042A>C GRCh37
NC_000006.10:g.31937021A>C NCBI36
NG_008201.1:g.6668T>G
NG_023058.1:g.22782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.538T>G MANE Select ENSP00000364782.4:p.Ser180Ala
ENST00000677054.1:n.1215T>G
ENST00000677512.1:n.646T>G
ENST00000678869.1:n.646T>G
ENST00000375631.4:c.538T>G ENSP00000364782.4:p.Ser180Ala
ENST00000480384.1:n.567T>G
ENST00000491768.5:c.538T>G ENSP00000433127.1:p.Ser180Ala
ENST00000495807.1:n.1106T>G
NM_000434.3:c.538T>G NP_000425.1:p.Ser180Ala
NM_000434.4:c.538T>G MANE Select NP_000425.1:p.Ser180Ala