Canonical Allele Identifier: CA363484708

Gene: NEU1

Linked Data

• dbSNP Id: rs1158767936
• gnomAD v2: 6-31827524-G-T
• gnomAD v4: 6-31859747-G-T
• MyVariant Identifiers: chr6:g.31827524G>T (hg19) ; chr6:g.31859747G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859747G>T , CM000668.2:g.31859747G>T	GRCh38
NC_000006.11:g.31827524G>T , CM000668.1:g.31827524G>T	GRCh37
NC_000006.10:g.31935503G>T	NCBI36
NG_008201.1:g.8186C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1220C>A MANE Select	ENSP00000364782.4:p.Ala407Asp
ENST00000677054.1:n.2559C>A
ENST00000677512.1:n.1497C>A
ENST00000678869.1:n.1808C>A
ENST00000375631.4:c.1220C>A	ENSP00000364782.4:p.Ala407Asp
ENST00000480384.1:n.1519C>A
ENST00000491768.5:c.*330C>A	ENSP00000433127.1:n.*330C>A
ENST00000495807.1:n.2528C>A
NM_000434.3:c.1220C>A	NP_000425.1:p.Ala407Asp
NM_000434.4:c.1220C>A MANE Select	NP_000425.1:p.Ala407Asp