Canonical Allele Identifier: CA3724874

Gene: NEU1

Linked Data

• ClinVar Variation Id: 356230
• ClinVar RCV Id: RCV000314408 ; RCV002058582
• dbSNP Id: rs150864071
• ExAC: 6:31827637 G / T
• gnomAD v2: 6-31827637-G-T
• gnomAD v3: 6-31859860-G-T
• gnomAD v4: 6-31859860-G-T
• MyVariant Identifiers: chr6:g.31827637G>T (hg19) ; chr6:g.31859860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859860G>T , CM000668.2:g.31859860G>T	GRCh38
NC_000006.11:g.31827637G>T , CM000668.1:g.31827637G>T	GRCh37
NC_000006.10:g.31935616G>T	NCBI36
NG_008201.1:g.8073C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1107C>A MANE Select	ENSP00000364782.4:p.Gly369=
ENST00000677054.1:n.2446C>A
ENST00000677512.1:n.1384C>A
ENST00000678869.1:n.1695C>A
ENST00000375631.4:c.1107C>A	ENSP00000364782.4:p.Gly369=
ENST00000480384.1:n.1406C>A
ENST00000491768.5:c.*217C>A	ENSP00000433127.1:n.*217C>A
ENST00000495807.1:n.2415C>A
NM_000434.3:c.1107C>A	NP_000425.1:p.Gly369=
NM_000434.4:c.1107C>A MANE Select	NP_000425.1:p.Gly369=