Canonical Allele Identifier: CA136925134

Gene: NEU1

Linked Data

• dbSNP Id: rs975085387
• gnomAD v2: 6-31827413-G-C
• gnomAD v3: 6-31859636-G-C
• gnomAD v4: 6-31859636-G-C
• MyVariant Identifiers: chr6:g.31827413G>C (hg19) ; chr6:g.31859636G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859636G>C , CM000668.2:g.31859636G>C	GRCh38
NC_000006.11:g.31827413G>C , CM000668.1:g.31827413G>C	GRCh37
NC_000006.10:g.31935392G>C	NCBI36
NG_008201.1:g.8297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.*83C>G MANE Select	ENSP00000364782.4:n.*83C>G
ENST00000677054.1:n.2670C>G
ENST00000677512.1:n.1608C>G
ENST00000678869.1:n.1919C>G
ENST00000375631.4:c.*83C>G	ENSP00000364782.4:n.*83C>G
ENST00000480384.1:n.1630C>G
ENST00000491768.5:c.*441C>G	ENSP00000433127.1:n.*441C>G
ENST00000495807.1:n.2639C>G
NM_000434.3:c.*83C>G	NP_000425.1:n.*83C>G
NM_000434.4:c.*83C>G MANE Select	NP_000425.1:n.*83C>G