Canonical Allele Identifier: CA363494435
Gene: NEU1 HGNC NCBI

Linked Data

gnomAD v4: 6-31861318-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861318G>A , CM000668.2:g.31861318G>A GRCh38
NC_000006.11:g.31829095G>A , CM000668.1:g.31829095G>A GRCh37
NC_000006.10:g.31937074G>A NCBI36
NG_008201.1:g.6615C>T
NG_023058.1:g.22729C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.485C>T MANE Select ENSP00000364782.4:p.Ala162Val
ENST00000677054.1:n.1162C>T
ENST00000677512.1:n.593C>T
ENST00000678869.1:n.593C>T
ENST00000375631.4:c.485C>T ENSP00000364782.4:p.Ala162Val
ENST00000480384.1:n.514C>T
ENST00000491768.5:c.485C>T ENSP00000433127.1:p.Ala162Val
ENST00000495807.1:n.1053C>T
NM_000434.3:c.485C>T NP_000425.1:p.Ala162Val
NM_000434.4:c.485C>T MANE Select NP_000425.1:p.Ala162Val