Canonical Allele Identifier: CA3725021

Gene: NEU1

Linked Data

• ClinVar Variation Id: 430337
• ClinVar RCV Id: RCV000492831 ; RCV000781657
• dbSNP Id: rs398123392
• ExAC: 6:31829036 T / C
• gnomAD v2: 6-31829036-T-C
• gnomAD v3: 6-31861259-T-C
• gnomAD v4: 6-31861259-T-C
• MyVariant Identifiers: chr6:g.31829036T>C (hg19) ; chr6:g.31861259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861259T>C , CM000668.2:g.31861259T>C	GRCh38
NC_000006.11:g.31829036T>C , CM000668.1:g.31829036T>C	GRCh37
NC_000006.10:g.31937015T>C	NCBI36
NG_008201.1:g.6674A>G
NG_023058.1:g.22788A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.544A>G MANE Select	ENSP00000364782.4:p.Ser182Gly
ENST00000677054.1:n.1221A>G
ENST00000677512.1:n.652A>G
ENST00000678869.1:n.652A>G
ENST00000375631.4:c.544A>G	ENSP00000364782.4:p.Ser182Gly
ENST00000480384.1:n.573A>G
ENST00000491768.5:c.544A>G	ENSP00000433127.1:p.Ser182Gly
ENST00000495807.1:n.1112A>G
NM_000434.3:c.544A>G	NP_000425.1:p.Ser182Gly
NM_000434.4:c.544A>G MANE Select	NP_000425.1:p.Ser182Gly