Canonical Allele Identifier: CA363494714

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861362-C-A
• MyVariant Identifiers: chr6:g.31829139C>A (hg19) ; chr6:g.31861362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861362C>A , CM000668.2:g.31861362C>A	GRCh38
NC_000006.11:g.31829139C>A , CM000668.1:g.31829139C>A	GRCh37
NC_000006.10:g.31937118C>A	NCBI36
NG_008201.1:g.6571G>T
NG_023058.1:g.22685G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.441G>T MANE Select	ENSP00000364782.4:p.Glu147Asp
ENST00000677054.1:n.1118G>T
ENST00000677512.1:n.549G>T
ENST00000678869.1:n.549G>T
ENST00000375631.4:c.441G>T	ENSP00000364782.4:p.Glu147Asp
ENST00000480384.1:n.470G>T
ENST00000491768.5:c.441G>T	ENSP00000433127.1:p.Glu147Asp
ENST00000495807.1:n.1009G>T
NM_000434.3:c.441G>T	NP_000425.1:p.Glu147Asp
NM_000434.4:c.441G>T MANE Select	NP_000425.1:p.Glu147Asp