Canonical Allele Identifier: CA363494760

Gene: NEU1

Linked Data

• dbSNP Id: rs1201714035
• gnomAD v2: 6-31829145-A-T
• MyVariant Identifiers: chr6:g.31829145A>T (hg19) ; chr6:g.31861368A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861368A>T , CM000668.2:g.31861368A>T	GRCh38
NC_000006.11:g.31829145A>T , CM000668.1:g.31829145A>T	GRCh37
NC_000006.10:g.31937124A>T	NCBI36
NG_008201.1:g.6565T>A
NG_023058.1:g.22679T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.435T>A MANE Select	ENSP00000364782.4:p.Asp145Glu
ENST00000677054.1:n.1112T>A
ENST00000677512.1:n.543T>A
ENST00000678869.1:n.543T>A
ENST00000375631.4:c.435T>A	ENSP00000364782.4:p.Asp145Glu
ENST00000480384.1:n.464T>A
ENST00000491768.5:c.435T>A	ENSP00000433127.1:p.Asp145Glu
ENST00000495807.1:n.1003T>A
NM_000434.3:c.435T>A	NP_000425.1:p.Asp145Glu
NM_000434.4:c.435T>A MANE Select	NP_000425.1:p.Asp145Glu