Canonical Allele Identifier: CA212562

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2452
• ClinVar RCV Id: RCV000002556 ; RCV003555900
• dbSNP Id: rs104893985
• ExAC: 6:31829889 G / A
• gnomAD v2: 6-31829889-G-A
• gnomAD v3: 6-31862112-G-A
• gnomAD v4: 6-31862112-G-A
• MyVariant Identifiers: chr6:g.31829889G>A (hg19) ; chr6:g.31862112G>A (hg38)
• PubMed: PMID:11829139

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31862112G>A , CM000668.2:g.31862112G>A	GRCh38
NC_000006.11:g.31829889G>A , CM000668.1:g.31829889G>A	GRCh37
NC_000006.10:g.31937868G>A	NCBI36
NG_008201.1:g.5821C>T
NG_023058.1:g.21935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.239C>T MANE Select	ENSP00000364782.4:p.Pro80Leu
ENST00000677054.1:n.368C>T
ENST00000677512.1:n.347C>T
ENST00000678869.1:n.347C>T
ENST00000375631.4:c.239C>T	ENSP00000364782.4:p.Pro80Leu
ENST00000480384.1:n.268C>T
ENST00000491768.5:c.239C>T	ENSP00000433127.1:p.Pro80Leu
ENST00000495807.1:n.259C>T
NM_000434.3:c.239C>T	NP_000425.1:p.Pro80Leu
NM_000434.4:c.239C>T MANE Select	NP_000425.1:p.Pro80Leu