Canonical Allele Identifier: CA212558

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2446
• ClinVar RCV Id: RCV000002550 ; RCV000814380
• dbSNP Id: rs104893977
• ExAC: 6:31828235 A / T
• gnomAD v2: 6-31828235-A-T
• gnomAD v3: 6-31860458-A-T
• gnomAD v4: 6-31860458-A-T
• MyVariant Identifiers: chr6:g.31828235A>T (hg19) ; chr6:g.31860458A>T (hg38)
• PubMed: PMID:9054950

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860458A>T , CM000668.2:g.31860458A>T	GRCh38
NC_000006.11:g.31828235A>T , CM000668.1:g.31828235A>T	GRCh37
NC_000006.10:g.31936214A>T	NCBI36
NG_008201.1:g.7475T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.779T>A MANE Select	ENSP00000364782.4:p.Phe260Tyr
ENST00000677054.1:n.2022T>A
ENST00000677512.1:n.887T>A
ENST00000678869.1:n.1453T>A
ENST00000375631.4:c.779T>A	ENSP00000364782.4:p.Phe260Tyr
ENST00000480384.1:n.808T>A
ENST00000491768.5:c.779T>A	ENSP00000433127.1:p.Phe260Tyr
ENST00000495807.1:n.1913T>A
NM_000434.3:c.779T>A	NP_000425.1:p.Phe260Tyr
NM_000434.4:c.779T>A MANE Select	NP_000425.1:p.Phe260Tyr