Canonical Allele Identifier: CA363484490
Gene: NEU1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859724G>C , CM000668.2:g.31859724G>C GRCh38
NC_000006.11:g.31827501G>C , CM000668.1:g.31827501G>C GRCh37
NC_000006.10:g.31935480G>C NCBI36
NG_008201.1:g.8209C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.1243C>G MANE Select ENSP00000364782.4:p.Leu415Val
ENST00000677054.1:n.2582C>G
ENST00000677512.1:n.1520C>G
ENST00000678869.1:n.1831C>G
ENST00000375631.4:c.1243C>G ENSP00000364782.4:p.Leu415Val
ENST00000480384.1:n.1542C>G
ENST00000491768.5:c.*353C>G ENSP00000433127.1:n.*353C>G
ENST00000495807.1:n.2551C>G
NM_000434.3:c.1243C>G NP_000425.1:p.Leu415Val
NM_000434.4:c.1243C>G MANE Select NP_000425.1:p.Leu415Val