Canonical Allele Identifier: CA212565

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2457
• ClinVar RCV Id: RCV000002561 ; RCV001314931 ; RCV003323347
• dbSNP Id: rs104893981
• ExAC: 6:31827947 G / A
• gnomAD v2: 6-31827947-G-A
• gnomAD v3: 6-31860170-G-A
• gnomAD v4: 6-31860170-G-A
• MyVariant Identifiers: chr6:g.31827947G>A (hg19) ; chr6:g.31860170G>A (hg38)
• PubMed: PMID:10767332 ; PMID:14695530 ; PMID:25153125

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860170G>A , CM000668.2:g.31860170G>A	GRCh38
NC_000006.11:g.31827947G>A , CM000668.1:g.31827947G>A	GRCh37
NC_000006.10:g.31935926G>A	NCBI36
NG_008201.1:g.7763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.893C>T MANE Select	ENSP00000364782.4:p.Ala298Val
ENST00000677054.1:n.2136C>T
ENST00000677512.1:n.1175C>T
ENST00000678869.1:n.1481C>T
ENST00000375631.4:c.893C>T	ENSP00000364782.4:p.Ala298Val
ENST00000480384.1:n.1096C>T
ENST00000491768.5:c.*3C>T	ENSP00000433127.1:n.*3C>T
ENST00000495807.1:n.2201C>T
NM_000434.3:c.893C>T	NP_000425.1:p.Ala298Val
NM_000434.4:c.893C>T MANE Select	NP_000425.1:p.Ala298Val