Canonical Allele Identifier: CA363495124
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs1253035197

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861427A>G , CM000668.2:g.31861427A>G GRCh38
NC_000006.11:g.31829204A>G , CM000668.1:g.31829204A>G GRCh37
NC_000006.10:g.31937183A>G NCBI36
NG_008201.1:g.6506T>C
NG_023058.1:g.22620T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.376T>C MANE Select ENSP00000364782.4:p.Phe126Leu
ENST00000677054.1:n.1053T>C
ENST00000677512.1:n.484T>C
ENST00000678869.1:n.484T>C
ENST00000375631.4:c.376T>C ENSP00000364782.4:p.Phe126Leu
ENST00000480384.1:n.405T>C
ENST00000491768.5:c.376T>C ENSP00000433127.1:p.Phe126Leu
ENST00000495807.1:n.944T>C
NM_000434.3:c.376T>C NP_000425.1:p.Phe126Leu
NM_000434.4:c.376T>C MANE Select NP_000425.1:p.Phe126Leu