Canonical Allele Identifier: CA3724984

Gene: NEU1

Linked Data

• ClinVar Variation Id: 430342
• ClinVar RCV Id: RCV000494284 ; RCV000587143 ; RCV001805111
• dbSNP Id: rs769765227
• ExAC: 6:31828335 C / T
• gnomAD v2: 6-31828335-C-T
• gnomAD v3: 6-31860558-C-T
• gnomAD v4: 6-31860558-C-T
• MyVariant Identifiers: chr6:g.31828335C>T (hg19) ; chr6:g.31860558C>T (hg38)
• PubMed: PMID:10767332 ; PMID:24808020

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860558C>T , CM000668.2:g.31860558C>T	GRCh38
NC_000006.11:g.31828335C>T , CM000668.1:g.31828335C>T	GRCh37
NC_000006.10:g.31936314C>T	NCBI36
NG_008201.1:g.7375G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.679G>A MANE Select	ENSP00000364782.4:p.Gly227Arg
ENST00000677054.1:n.1922G>A
ENST00000677512.1:n.787G>A
ENST00000678869.1:n.1353G>A
ENST00000375631.4:c.679G>A	ENSP00000364782.4:p.Gly227Arg
ENST00000480384.1:n.708G>A
ENST00000491768.5:c.679G>A	ENSP00000433127.1:p.Gly227Arg
ENST00000495807.1:n.1813G>A
NM_000434.3:c.679G>A	NP_000425.1:p.Gly227Arg
NM_000434.4:c.679G>A MANE Select	NP_000425.1:p.Gly227Arg