Canonical Allele Identifier: CA212559

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2447
• ClinVar RCV Id: RCV000002551 ; RCV003555898
• dbSNP Id: rs193922915
• gnomAD v3: 6-31859879-A-G
• gnomAD v4: 6-31859879-A-G
• MyVariant Identifiers: chr6:g.31827656A>G (hg19) ; chr6:g.31859879A>G (hg38)
• PubMed: PMID:9054950

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859879A>G , CM000668.2:g.31859879A>G	GRCh38
NC_000006.11:g.31827656A>G , CM000668.1:g.31827656A>G	GRCh37
NC_000006.10:g.31935635A>G	NCBI36
NG_008201.1:g.8054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1088T>C MANE Select	ENSP00000364782.4:p.Leu363Pro
ENST00000677054.1:n.2427T>C
ENST00000677512.1:n.1365T>C
ENST00000678869.1:n.1676T>C
ENST00000375631.4:c.1088T>C	ENSP00000364782.4:p.Leu363Pro
ENST00000480384.1:n.1387T>C
ENST00000491768.5:c.*198T>C	ENSP00000433127.1:n.*198T>C
ENST00000495807.1:n.2396T>C
NM_000434.3:c.1088T>C	NP_000425.1:p.Leu363Pro
NM_000434.4:c.1088T>C MANE Select	NP_000425.1:p.Leu363Pro