Canonical Allele Identifier: CA566692247

Gene: NEU1

Linked Data

• dbSNP Id: rs1405693151
• gnomAD v2: 6-31827725-G-A
• MyVariant Identifiers: chr6:g.31827725G>A (hg19) ; chr6:g.31859948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859948G>A , CM000668.2:g.31859948G>A	GRCh38
NC_000006.11:g.31827725G>A , CM000668.1:g.31827725G>A	GRCh37
NC_000006.10:g.31935704G>A	NCBI36
NG_008201.1:g.7985C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.1022-3C>T MANE Select	ENSP00000364782.4:n.1022-3C>T
ENST00000677054.1:n.2358C>T
ENST00000677512.1:n.1299-3C>T
ENST00000678869.1:n.1610-3C>T
ENST00000375631.4:c.1022-3C>T	ENSP00000364782.4:n.1022-3C>T
ENST00000480384.1:n.1318C>T
ENST00000491768.5:c.*132-3C>T	ENSP00000433127.1:n.*132-3C>T
ENST00000495807.1:n.2330-3C>T
NM_000434.3:c.1022-3C>T	NP_000425.1:n.1022-3C>T
NM_000434.4:c.1022-3C>T MANE Select	NP_000425.1:n.1022-3C>T