Canonical Allele Identifier: CA363495071

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31829195T>A (hg19) ; chr6:g.31861418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861418T>A , CM000668.2:g.31861418T>A	GRCh38
NC_000006.11:g.31829195T>A , CM000668.1:g.31829195T>A	GRCh37
NC_000006.10:g.31937174T>A	NCBI36
NG_008201.1:g.6515A>T
NG_023058.1:g.22629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.385A>T MANE Select	ENSP00000364782.4:p.Asn129Tyr
ENST00000677054.1:n.1062A>T
ENST00000677512.1:n.493A>T
ENST00000678869.1:n.493A>T
ENST00000375631.4:c.385A>T	ENSP00000364782.4:p.Asn129Tyr
ENST00000480384.1:n.414A>T
ENST00000491768.5:c.385A>T	ENSP00000433127.1:p.Asn129Tyr
ENST00000495807.1:n.953A>T
NM_000434.3:c.385A>T	NP_000425.1:p.Asn129Tyr
NM_000434.4:c.385A>T MANE Select	NP_000425.1:p.Asn129Tyr