Canonical Allele Identifier: CA3725040

Gene: NEU1

Linked Data

• dbSNP Id: rs776933613
• ExAC: 6:31829217 C / A
• gnomAD v2: 6-31829217-C-A
• gnomAD v4: 6-31861440-C-A
• MyVariant Identifiers: chr6:g.31829217C>A (hg19) ; chr6:g.31861440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861440C>A , CM000668.2:g.31861440C>A	GRCh38
NC_000006.11:g.31829217C>A , CM000668.1:g.31829217C>A	GRCh37
NC_000006.10:g.31937196C>A	NCBI36
NG_008201.1:g.6493G>T
NG_023058.1:g.22607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.363G>T MANE Select	ENSP00000364782.4:p.Trp121Cys
ENST00000677054.1:n.1040G>T
ENST00000677512.1:n.471G>T
ENST00000678869.1:n.471G>T
ENST00000375631.4:c.363G>T	ENSP00000364782.4:p.Trp121Cys
ENST00000480384.1:n.392G>T
ENST00000491768.5:c.363G>T	ENSP00000433127.1:p.Trp121Cys
ENST00000495807.1:n.931G>T
NM_000434.3:c.363G>T	NP_000425.1:p.Trp121Cys
NM_000434.4:c.363G>T MANE Select	NP_000425.1:p.Trp121Cys