Canonical Allele Identifier: CA3724968

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2711340
• ClinVar RCV Id: RCV003552846
• dbSNP Id: rs752064821
• ExAC: 6:31828252 G / A
• gnomAD v2: 6-31828252-G-A
• gnomAD v4: 6-31860475-G-A
• MyVariant Identifiers: chr6:g.31828252G>A (hg19) ; chr6:g.31860475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860475G>A , CM000668.2:g.31860475G>A	GRCh38
NC_000006.11:g.31828252G>A , CM000668.1:g.31828252G>A	GRCh37
NC_000006.10:g.31936231G>A	NCBI36
NG_008201.1:g.7458C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.762C>T MANE Select	ENSP00000364782.4:p.Pro254=
ENST00000677054.1:n.2005C>T
ENST00000677512.1:n.870C>T
ENST00000678869.1:n.1436C>T
ENST00000375631.4:c.762C>T	ENSP00000364782.4:p.Pro254=
ENST00000480384.1:n.791C>T
ENST00000491768.5:c.762C>T	ENSP00000433127.1:p.Pro254=
ENST00000495807.1:n.1896C>T
NM_000434.3:c.762C>T	NP_000425.1:p.Pro254=
NM_000434.4:c.762C>T MANE Select	NP_000425.1:p.Pro254=