Canonical Allele Identifier: CA363486237

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31827714G>T (hg19) ; chr6:g.31859937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859937G>T , CM000668.2:g.31859937G>T	GRCh38
NC_000006.11:g.31827714G>T , CM000668.1:g.31827714G>T	GRCh37
NC_000006.10:g.31935693G>T	NCBI36
NG_008201.1:g.7996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1030C>A MANE Select	ENSP00000364782.4:p.Leu344Met
ENST00000677054.1:n.2369C>A
ENST00000677512.1:n.1307C>A
ENST00000678869.1:n.1618C>A
ENST00000375631.4:c.1030C>A	ENSP00000364782.4:p.Leu344Met
ENST00000480384.1:n.1329C>A
ENST00000491768.5:c.*140C>A	ENSP00000433127.1:n.*140C>A
ENST00000495807.1:n.2338C>A
NM_000434.3:c.1030C>A	NP_000425.1:p.Leu344Met
NM_000434.4:c.1030C>A MANE Select	NP_000425.1:p.Leu344Met