Canonical Allele Identifier: CA363495075

Gene: NEU1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.385A>C MANE Select	ENSP00000364782.4:p.Asn129His
ENST00000677054.1:n.1062A>C
ENST00000677512.1:n.493A>C
ENST00000678869.1:n.493A>C
ENST00000375631.4:c.385A>C	ENSP00000364782.4:p.Asn129His
ENST00000480384.1:n.414A>C
ENST00000491768.5:c.385A>C	ENSP00000433127.1:p.Asn129His
ENST00000495807.1:n.953A>C
NM_000434.3:c.385A>C	NP_000425.1:p.Asn129His
NM_000434.4:c.385A>C MANE Select	NP_000425.1:p.Asn129His