Canonical Allele Identifier: CA3724859

Gene: NEU1

Linked Data

• ClinVar Variation Id: 784070
• ClinVar RCV Id: RCV000965705 ; RCV003960771
• dbSNP Id: rs114618932
• ExAC: 6:31827505 C / T
• gnomAD v2: 6-31827505-C-T
• gnomAD v3: 6-31859728-C-T
• gnomAD v4: 6-31859728-C-T
• MyVariant Identifiers: chr6:g.31827505C>T (hg19) ; chr6:g.31859728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859728C>T , CM000668.2:g.31859728C>T	GRCh38
NC_000006.11:g.31827505C>T , CM000668.1:g.31827505C>T	GRCh37
NC_000006.10:g.31935484C>T	NCBI36
NG_008201.1:g.8205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1239G>A MANE Select	ENSP00000364782.4:p.Gly413=
ENST00000677054.1:n.2578G>A
ENST00000677512.1:n.1516G>A
ENST00000678869.1:n.1827G>A
ENST00000375631.4:c.1239G>A	ENSP00000364782.4:p.Gly413=
ENST00000480384.1:n.1538G>A
ENST00000491768.5:c.*349G>A	ENSP00000433127.1:n.*349G>A
ENST00000495807.1:n.2547G>A
NM_000434.3:c.1239G>A	NP_000425.1:p.Gly413=
NM_000434.4:c.1239G>A MANE Select	NP_000425.1:p.Gly413=