Canonical Allele Identifier: CA449808230

Gene: NEU1

Linked Data

• dbSNP Id: rs1762465337
• gnomAD v3: 6-31860481-A-C
• gnomAD v4: 6-31860481-A-C
• MyVariant Identifiers: chr6:g.31828258A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860481A>C , CM000668.2:g.31860481A>C	GRCh38
NC_000006.11:g.31828258A>C , CM000668.1:g.31828258A>C	GRCh37
NC_000006.10:g.31936237A>C	NCBI36
NG_008201.1:g.7452T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.756T>G MANE Select	ENSP00000364782.4:p.Gly252=
ENST00000677054.1:n.1999T>G
ENST00000677512.1:n.864T>G
ENST00000678869.1:n.1430T>G
ENST00000375631.4:c.756T>G	ENSP00000364782.4:p.Gly252=
ENST00000480384.1:n.785T>G
ENST00000491768.5:c.756T>G	ENSP00000433127.1:p.Gly252=
ENST00000495807.1:n.1890T>G
NM_000434.3:c.756T>G	NP_000425.1:p.Gly252=
NM_000434.4:c.756T>G MANE Select	NP_000425.1:p.Gly252=