Canonical Allele Identifier: CA3724854

Gene: NEU1

Linked Data

• dbSNP Id: rs777296119
• ExAC: 6:31827450 A / G
• gnomAD v2: 6-31827450-A-G
• MyVariant Identifiers: chr6:g.31827450A>G (hg19) ; chr6:g.31859673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859673A>G , CM000668.2:g.31859673A>G	GRCh38
NC_000006.11:g.31827450A>G , CM000668.1:g.31827450A>G	GRCh37
NC_000006.10:g.31935429A>G	NCBI36
NG_008201.1:g.8260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.*46T>C MANE Select	ENSP00000364782.4:n.*46T>C
ENST00000677054.1:n.2633T>C
ENST00000677512.1:n.1571T>C
ENST00000678869.1:n.1882T>C
ENST00000375631.4:c.*46T>C	ENSP00000364782.4:n.*46T>C
ENST00000480384.1:n.1593T>C
ENST00000491768.5:c.*404T>C	ENSP00000433127.1:n.*404T>C
ENST00000495807.1:n.2602T>C
NM_000434.3:c.*46T>C	NP_000425.1:n.*46T>C
NM_000434.4:c.*46T>C MANE Select	NP_000425.1:n.*46T>C