Canonical Allele Identifier: CA566692250

Gene: NEU1

Linked Data

• dbSNP Id: rs1226535406
• gnomAD v2: 6-31827744-G-A
• gnomAD v4: 6-31859967-G-A
• MyVariant Identifiers: chr6:g.31827744G>A (hg19) ; chr6:g.31859967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859967G>A , CM000668.2:g.31859967G>A	GRCh38
NC_000006.11:g.31827744G>A , CM000668.1:g.31827744G>A	GRCh37
NC_000006.10:g.31935723G>A	NCBI36
NG_008201.1:g.7966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1022-22C>T MANE Select	ENSP00000364782.4:n.1022-22C>T
ENST00000677054.1:n.2339C>T
ENST00000677512.1:n.1299-22C>T
ENST00000678869.1:n.1610-22C>T
ENST00000375631.4:c.1022-22C>T	ENSP00000364782.4:n.1022-22C>T
ENST00000480384.1:n.1299C>T
ENST00000491768.5:c.*132-22C>T	ENSP00000433127.1:n.*132-22C>T
ENST00000495807.1:n.2330-22C>T
NM_000434.3:c.1022-22C>T	NP_000425.1:n.1022-22C>T
NM_000434.4:c.1022-22C>T MANE Select	NP_000425.1:n.1022-22C>T