Canonical Allele Identifier: CA3724929

Gene: NEU1

Linked Data

• ClinVar Variation Id: 356231
• ClinVar RCV Id: RCV000395474 ; RCV002058583
• dbSNP Id: rs754422982
• ExAC: 6:31827952 A / G
• gnomAD v2: 6-31827952-A-G
• gnomAD v3: 6-31860175-A-G
• gnomAD v4: 6-31860175-A-G
• MyVariant Identifiers: chr6:g.31827952A>G (hg19) ; chr6:g.31860175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860175A>G , CM000668.2:g.31860175A>G	GRCh38
NC_000006.11:g.31827952A>G , CM000668.1:g.31827952A>G	GRCh37
NC_000006.10:g.31935931A>G	NCBI36
NG_008201.1:g.7758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.888T>C MANE Select	ENSP00000364782.4:p.Tyr296=
ENST00000677054.1:n.2131T>C
ENST00000677512.1:n.1170T>C
ENST00000678869.1:n.1476T>C
ENST00000375631.4:c.888T>C	ENSP00000364782.4:p.Tyr296=
ENST00000480384.1:n.1091T>C
ENST00000491768.5:c.802T>C	ENSP00000433127.1:p.Ter268Arg
ENST00000495807.1:n.2196T>C
NM_000434.3:c.888T>C	NP_000425.1:p.Tyr296=
NM_000434.4:c.888T>C MANE Select	NP_000425.1:p.Tyr296=