Canonical Allele Identifier: CA212557
Gene: NEU1 HGNC NCBI
ClinVar RCV:
RCV000002548
ClinVar Variation:
2444
dbSNP:
104893972
gnomAD v2:
6:31829856 A / C
gnomAD v4:
chr6-31862079-A-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr6:g.31862079A>C
GRCh37 chr6:g.31829856A>C
Revel Score:
ENST00000375631 (MANE Select) 0.871
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31862079A>C , CM000668.2:g.31862079A>C GRCh38
NC_000006.11:g.31829856A>C , CM000668.1:g.31829856A>C GRCh37
NC_000006.10:g.31937835A>C NCBI36
NG_008201.1:g.5854T>G
NG_023058.1:g.21968T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.272T>G MANE Select ENSP00000364782.4:p.Leu91Arg
ENST00000677054.1:n.401T>G
ENST00000677512.1:n.380T>G
ENST00000678869.1:n.380T>G
ENST00000375631.4:c.272T>G ENSP00000364782.4:p.Leu91Arg
ENST00000480384.1:n.301T>G
ENST00000491768.5:c.272T>G ENSP00000433127.1:p.Leu91Arg
ENST00000495807.1:n.292T>G
NM_000434.3:c.272T>G NP_000425.1:p.Leu91Arg
NM_000434.4:c.272T>G MANE Select NP_000425.1:p.Leu91Arg
Search 100 bp 5'
Search 100 bp 3'