Canonical Allele Identifier: CA449808619

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2919807
• ClinVar RCV Id: RCV003736041
• gnomAD v4: 6-31861428-C-T
• MyVariant Identifiers: chr6:g.31829205C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861428C>T , CM000668.2:g.31861428C>T	GRCh38
NC_000006.11:g.31829205C>T , CM000668.1:g.31829205C>T	GRCh37
NC_000006.10:g.31937184C>T	NCBI36
NG_008201.1:g.6505G>A
NG_023058.1:g.22619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.375G>A MANE Select	ENSP00000364782.4:p.Ala125=
ENST00000677054.1:n.1052G>A
ENST00000677512.1:n.483G>A
ENST00000678869.1:n.483G>A
ENST00000375631.4:c.375G>A	ENSP00000364782.4:p.Ala125=
ENST00000480384.1:n.404G>A
ENST00000491768.5:c.375G>A	ENSP00000433127.1:p.Ala125=
ENST00000495807.1:n.943G>A
NM_000434.3:c.375G>A	NP_000425.1:p.Ala125=
NM_000434.4:c.375G>A MANE Select	NP_000425.1:p.Ala125=