Canonical Allele Identifier: CA363494787
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2416340
ClinVar RCV Id: RCV003107089
dbSNP Id: rs1762502939
gnomAD v4: 6-31861372-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861372C>T , CM000668.2:g.31861372C>T GRCh38
NC_000006.11:g.31829149C>T , CM000668.1:g.31829149C>T GRCh37
NC_000006.10:g.31937128C>T NCBI36
NG_008201.1:g.6561G>A
NG_023058.1:g.22675G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.431G>A MANE Select ENSP00000364782.4:p.Ser144Asn
ENST00000677054.1:n.1108G>A
ENST00000677512.1:n.539G>A
ENST00000678869.1:n.539G>A
ENST00000375631.4:c.431G>A ENSP00000364782.4:p.Ser144Asn
ENST00000480384.1:n.460G>A
ENST00000491768.5:c.431G>A ENSP00000433127.1:p.Ser144Asn
ENST00000495807.1:n.999G>A
NM_000434.3:c.431G>A NP_000425.1:p.Ser144Asn
NM_000434.4:c.431G>A MANE Select NP_000425.1:p.Ser144Asn