Canonical Allele Identifier: CA363484582

Gene: NEU1

Linked Data

• dbSNP Id: rs1303063503
• gnomAD v3: 6-31859735-A-G
• gnomAD v4: 6-31859735-A-G
• MyVariant Identifiers: chr6:g.31827512A>G (hg19) ; chr6:g.31859735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859735A>G , CM000668.2:g.31859735A>G	GRCh38
NC_000006.11:g.31827512A>G , CM000668.1:g.31827512A>G	GRCh37
NC_000006.10:g.31935491A>G	NCBI36
NG_008201.1:g.8198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1232T>C MANE Select	ENSP00000364782.4:p.Val411Ala
ENST00000677054.1:n.2571T>C
ENST00000677512.1:n.1509T>C
ENST00000678869.1:n.1820T>C
ENST00000375631.4:c.1232T>C	ENSP00000364782.4:p.Val411Ala
ENST00000480384.1:n.1531T>C
ENST00000491768.5:c.*342T>C	ENSP00000433127.1:n.*342T>C
ENST00000495807.1:n.2540T>C
NM_000434.3:c.1232T>C	NP_000425.1:p.Val411Ala
NM_000434.4:c.1232T>C MANE Select	NP_000425.1:p.Val411Ala