Canonical Allele Identifier: CA363491801

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31828253G>T (hg19) ; chr6:g.31860476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860476G>T , CM000668.2:g.31860476G>T	GRCh38
NC_000006.11:g.31828253G>T , CM000668.1:g.31828253G>T	GRCh37
NC_000006.10:g.31936232G>T	NCBI36
NG_008201.1:g.7457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.761C>A MANE Select	ENSP00000364782.4:p.Pro254His
ENST00000677054.1:n.2004C>A
ENST00000677512.1:n.869C>A
ENST00000678869.1:n.1435C>A
ENST00000375631.4:c.761C>A	ENSP00000364782.4:p.Pro254His
ENST00000480384.1:n.790C>A
ENST00000491768.5:c.761C>A	ENSP00000433127.1:p.Pro254His
ENST00000495807.1:n.1895C>A
NM_000434.3:c.761C>A	NP_000425.1:p.Pro254His
NM_000434.4:c.761C>A MANE Select	NP_000425.1:p.Pro254His