Canonical Allele Identifier: CA363495232

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861445-T-A
• MyVariant Identifiers: chr6:g.31829222T>A (hg19) ; chr6:g.31861445T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861445T>A , CM000668.2:g.31861445T>A	GRCh38
NC_000006.11:g.31829222T>A , CM000668.1:g.31829222T>A	GRCh37
NC_000006.10:g.31937201T>A	NCBI36
NG_008201.1:g.6488A>T
NG_023058.1:g.22602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.358A>T MANE Select	ENSP00000364782.4:p.Thr120Ser
ENST00000677054.1:n.1035A>T
ENST00000677512.1:n.466A>T
ENST00000678869.1:n.466A>T
ENST00000375631.4:c.358A>T	ENSP00000364782.4:p.Thr120Ser
ENST00000480384.1:n.387A>T
ENST00000491768.5:c.358A>T	ENSP00000433127.1:p.Thr120Ser
ENST00000495807.1:n.926A>T
NM_000434.3:c.358A>T	NP_000425.1:p.Thr120Ser
NM_000434.4:c.358A>T MANE Select	NP_000425.1:p.Thr120Ser