Canonical Allele Identifier: CA363486779

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31827833G>A (hg19) ; chr6:g.31860056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860056G>A , CM000668.2:g.31860056G>A	GRCh38
NC_000006.11:g.31827833G>A , CM000668.1:g.31827833G>A	GRCh37
NC_000006.10:g.31935812G>A	NCBI36
NG_008201.1:g.7877C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.1007C>T MANE Select	ENSP00000364782.4:p.Ala336Val
ENST00000677054.1:n.2250C>T
ENST00000677512.1:n.1289C>T
ENST00000678869.1:n.1595C>T
ENST00000375631.4:c.1007C>T	ENSP00000364782.4:p.Ala336Val
ENST00000480384.1:n.1210C>T
ENST00000491768.5:c.*117C>T	ENSP00000433127.1:n.*117C>T
ENST00000495807.1:n.2315C>T
NM_000434.3:c.1007C>T	NP_000425.1:p.Ala336Val
NM_000434.4:c.1007C>T MANE Select	NP_000425.1:p.Ala336Val