Canonical Allele Identifier: CA363486322

Gene: NEU1

Linked Data

• gnomAD v4: 6-31859943-C-G
• MyVariant Identifiers: chr6:g.31827720C>G (hg19) ; chr6:g.31859943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859943C>G , CM000668.2:g.31859943C>G	GRCh38
NC_000006.11:g.31827720C>G , CM000668.1:g.31827720C>G	GRCh37
NC_000006.10:g.31935699C>G	NCBI36
NG_008201.1:g.7990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1024G>C MANE Select	ENSP00000364782.4:p.Val342Leu
ENST00000677054.1:n.2363G>C
ENST00000677512.1:n.1301G>C
ENST00000678869.1:n.1612G>C
ENST00000375631.4:c.1024G>C	ENSP00000364782.4:p.Val342Leu
ENST00000480384.1:n.1323G>C
ENST00000491768.5:c.*134G>C	ENSP00000433127.1:n.*134G>C
ENST00000495807.1:n.2332G>C
NM_000434.3:c.1024G>C	NP_000425.1:p.Val342Leu
NM_000434.4:c.1024G>C MANE Select	NP_000425.1:p.Val342Leu