Canonical Allele Identifier: CA363494964

Gene: NEU1

Linked Data

• dbSNP Id: rs1581821647
• MyVariant Identifiers: chr6:g.31829179G>C (hg19) ; chr6:g.31861402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861402G>C , CM000668.2:g.31861402G>C	GRCh38
NC_000006.11:g.31829179G>C , CM000668.1:g.31829179G>C	GRCh37
NC_000006.10:g.31937158G>C	NCBI36
NG_008201.1:g.6531C>G
NG_023058.1:g.22645C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.401C>G MANE Select	ENSP00000364782.4:p.Pro134Arg
ENST00000677054.1:n.1078C>G
ENST00000677512.1:n.509C>G
ENST00000678869.1:n.509C>G
ENST00000375631.4:c.401C>G	ENSP00000364782.4:p.Pro134Arg
ENST00000480384.1:n.430C>G
ENST00000491768.5:c.401C>G	ENSP00000433127.1:p.Pro134Arg
ENST00000495807.1:n.969C>G
NM_000434.3:c.401C>G	NP_000425.1:p.Pro134Arg
NM_000434.4:c.401C>G MANE Select	NP_000425.1:p.Pro134Arg