Canonical Allele Identifier: CA363493980

Gene: NEU1

Linked Data

• dbSNP Id: rs771662960
• gnomAD v2: 6-31829030-G-T
• gnomAD v4: 6-31861253-G-T
• MyVariant Identifiers: chr6:g.31829030G>T (hg19) ; chr6:g.31861253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861253G>T , CM000668.2:g.31861253G>T	GRCh38
NC_000006.11:g.31829030G>T , CM000668.1:g.31829030G>T	GRCh37
NC_000006.10:g.31937009G>T	NCBI36
NG_008201.1:g.6680C>A
NG_023058.1:g.22794C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.550C>A MANE Select	ENSP00000364782.4:p.Pro184Thr
ENST00000677054.1:n.1227C>A
ENST00000677512.1:n.658C>A
ENST00000678869.1:n.658C>A
ENST00000375631.4:c.550C>A	ENSP00000364782.4:p.Pro184Thr
ENST00000480384.1:n.579C>A
ENST00000491768.5:c.550C>A	ENSP00000433127.1:p.Pro184Thr
ENST00000495807.1:n.1118C>A
NM_000434.3:c.550C>A	NP_000425.1:p.Pro184Thr
NM_000434.4:c.550C>A MANE Select	NP_000425.1:p.Pro184Thr