Canonical Allele Identifier: CA3725035

Gene: NEU1

Linked Data

• ClinVar Variation Id: 718316
• ClinVar RCV Id: RCV000891246 ; RCV001156383
• dbSNP Id: rs142833447
• ExAC: 6:31829178 G / A
• gnomAD v2: 6-31829178-G-A
• gnomAD v3: 6-31861401-G-A
• gnomAD v4: 6-31861401-G-A
• MyVariant Identifiers: chr6:g.31829178G>A (hg19) ; chr6:g.31861401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861401G>A , CM000668.2:g.31861401G>A	GRCh38
NC_000006.11:g.31829178G>A , CM000668.1:g.31829178G>A	GRCh37
NC_000006.10:g.31937157G>A	NCBI36
NG_008201.1:g.6532C>T
NG_023058.1:g.22646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.402C>T MANE Select	ENSP00000364782.4:p.Pro134=
ENST00000677054.1:n.1079C>T
ENST00000677512.1:n.510C>T
ENST00000678869.1:n.510C>T
ENST00000375631.4:c.402C>T	ENSP00000364782.4:p.Pro134=
ENST00000480384.1:n.431C>T
ENST00000491768.5:c.402C>T	ENSP00000433127.1:p.Pro134=
ENST00000495807.1:n.970C>T
NM_000434.3:c.402C>T	NP_000425.1:p.Pro134=
NM_000434.4:c.402C>T MANE Select	NP_000425.1:p.Pro134=