Canonical Allele Identifier: CA823920833

Gene: NEU1

Linked Data

• dbSNP Id: rs1238569098
• gnomAD v3: 6-31861455-A-C
• gnomAD v4: 6-31861455-A-C
• MyVariant Identifiers: chr6:g.31829232A>C (hg19) ; chr6:g.31861455A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861455A>C , CM000668.2:g.31861455A>C	GRCh38
NC_000006.11:g.31829232A>C , CM000668.1:g.31829232A>C	GRCh37
NC_000006.10:g.31937211A>C	NCBI36
NG_008201.1:g.6478T>G
NG_023058.1:g.22592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.353-5T>G MANE Select	ENSP00000364782.4:n.353-5T>G
ENST00000677054.1:n.1025T>G
ENST00000677512.1:n.461-5T>G
ENST00000678869.1:n.461-5T>G
ENST00000375631.4:c.353-5T>G	ENSP00000364782.4:n.353-5T>G
ENST00000480384.1:n.382-5T>G
ENST00000491768.5:c.353-5T>G	ENSP00000433127.1:n.353-5T>G
ENST00000495807.1:n.916T>G
NM_000434.3:c.353-5T>G	NP_000425.1:n.353-5T>G
NM_000434.4:c.353-5T>G MANE Select	NP_000425.1:n.353-5T>G