Canonical Allele Identifier: CA3725038

Gene: NEU1

Linked Data

• dbSNP Id: rs746501341
• ExAC: 6:31829207 C / G
• gnomAD v2: 6-31829207-C-G
• gnomAD v4: 6-31861430-C-G
• MyVariant Identifiers: chr6:g.31829207C>G (hg19) ; chr6:g.31861430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861430C>G , CM000668.2:g.31861430C>G	GRCh38
NC_000006.11:g.31829207C>G , CM000668.1:g.31829207C>G	GRCh37
NC_000006.10:g.31937186C>G	NCBI36
NG_008201.1:g.6503G>C
NG_023058.1:g.22617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.373G>C MANE Select	ENSP00000364782.4:p.Ala125Pro
ENST00000677054.1:n.1050G>C
ENST00000677512.1:n.481G>C
ENST00000678869.1:n.481G>C
ENST00000375631.4:c.373G>C	ENSP00000364782.4:p.Ala125Pro
ENST00000480384.1:n.402G>C
ENST00000491768.5:c.373G>C	ENSP00000433127.1:p.Ala125Pro
ENST00000495807.1:n.941G>C
NM_000434.3:c.373G>C	NP_000425.1:p.Ala125Pro
NM_000434.4:c.373G>C MANE Select	NP_000425.1:p.Ala125Pro