Canonical Allele Identifier: CA449808594

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861389-G-A
• MyVariant Identifiers: chr6:g.31829166G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861389G>A , CM000668.2:g.31861389G>A	GRCh38
NC_000006.11:g.31829166G>A , CM000668.1:g.31829166G>A	GRCh37
NC_000006.10:g.31937145G>A	NCBI36
NG_008201.1:g.6544C>T
NG_023058.1:g.22658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.414C>T MANE Select	ENSP00000364782.4:p.Asn138=
ENST00000677054.1:n.1091C>T
ENST00000677512.1:n.522C>T
ENST00000678869.1:n.522C>T
ENST00000375631.4:c.414C>T	ENSP00000364782.4:p.Asn138=
ENST00000480384.1:n.443C>T
ENST00000491768.5:c.414C>T	ENSP00000433127.1:p.Asn138=
ENST00000495807.1:n.982C>T
NM_000434.3:c.414C>T	NP_000425.1:p.Asn138=
NM_000434.4:c.414C>T MANE Select	NP_000425.1:p.Asn138=