Canonical Allele Identifier: CA3724946

Gene: NEU1

Linked Data

• ClinVar Variation Id: 356232
• ClinVar RCV Id: RCV000313171 ; RCV002058584
• dbSNP Id: rs759065536
• ExAC: 6:31828045 A / G
• gnomAD v2: 6-31828045-A-G
• gnomAD v3: 6-31860268-A-G
• gnomAD v4: 6-31860268-A-G
• MyVariant Identifiers: chr6:g.31828045A>G (hg19) ; chr6:g.31860268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860268A>G , CM000668.2:g.31860268A>G	GRCh38
NC_000006.11:g.31828045A>G , CM000668.1:g.31828045A>G	GRCh37
NC_000006.10:g.31936024A>G	NCBI36
NG_008201.1:g.7665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.799-4T>C MANE Select	ENSP00000364782.4:n.799-4T>C
ENST00000677054.1:n.2042-4T>C
ENST00000677512.1:n.1077T>C
ENST00000678869.1:n.1473-90T>C
ENST00000375631.4:c.799-4T>C	ENSP00000364782.4:n.799-4T>C
ENST00000480384.1:n.998T>C
ENST00000491768.5:c.799-90T>C	ENSP00000433127.1:n.799-90T>C
ENST00000495807.1:n.2103T>C
NM_000434.3:c.799-4T>C	NP_000425.1:n.799-4T>C
NM_000434.4:c.799-4T>C MANE Select	NP_000425.1:n.799-4T>C