Canonical Allele Identifier: CA363494833
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs1164633477
gnomAD v2: 6-31829156-C-T
gnomAD v3: 6-31861379-C-T
gnomAD v4: 6-31861379-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861379C>T , CM000668.2:g.31861379C>T GRCh38
NC_000006.11:g.31829156C>T , CM000668.1:g.31829156C>T GRCh37
NC_000006.10:g.31937135C>T NCBI36
NG_008201.1:g.6554G>A
NG_023058.1:g.22668G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.424G>A MANE Select ENSP00000364782.4:p.Val142Ile
ENST00000677054.1:n.1101G>A
ENST00000677512.1:n.532G>A
ENST00000678869.1:n.532G>A
ENST00000375631.4:c.424G>A ENSP00000364782.4:p.Val142Ile
ENST00000480384.1:n.453G>A
ENST00000491768.5:c.424G>A ENSP00000433127.1:p.Val142Ile
ENST00000495807.1:n.992G>A
NM_000434.3:c.424G>A NP_000425.1:p.Val142Ile
NM_000434.4:c.424G>A MANE Select NP_000425.1:p.Val142Ile