Canonical Allele Identifier: CA3724918

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2893596
• ClinVar RCV Id: RCV003732902 ; RCV003956513
• dbSNP Id: rs149992593
• ExAC: 6:31827901 G / A
• gnomAD v2: 6-31827901-G-A
• gnomAD v4: 6-31860124-G-A
• MyVariant Identifiers: chr6:g.31827901G>A (hg19) ; chr6:g.31860124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860124G>A , CM000668.2:g.31860124G>A	GRCh38
NC_000006.11:g.31827901G>A , CM000668.1:g.31827901G>A	GRCh37
NC_000006.10:g.31935880G>A	NCBI36
NG_008201.1:g.7809C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.939C>T MANE Select	ENSP00000364782.4:p.Leu313=
ENST00000677054.1:n.2182C>T
ENST00000677512.1:n.1221C>T
ENST00000678869.1:n.1527C>T
ENST00000375631.4:c.939C>T	ENSP00000364782.4:p.Leu313=
ENST00000480384.1:n.1142C>T
ENST00000491768.5:c.*49C>T	ENSP00000433127.1:n.*49C>T
ENST00000495807.1:n.2247C>T
NM_000434.3:c.939C>T	NP_000425.1:p.Leu313=
NM_000434.4:c.939C>T MANE Select	NP_000425.1:p.Leu313=