Canonical Allele Identifier: CA3725032

Gene: NEU1

Linked Data

• dbSNP Id: rs753673498
• ExAC: 6:31829165 G / C
• gnomAD v2: 6-31829165-G-C
• gnomAD v4: 6-31861388-G-C
• MyVariant Identifiers: chr6:g.31829165G>C (hg19) ; chr6:g.31861388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861388G>C , CM000668.2:g.31861388G>C	GRCh38
NC_000006.11:g.31829165G>C , CM000668.1:g.31829165G>C	GRCh37
NC_000006.10:g.31937144G>C	NCBI36
NG_008201.1:g.6545C>G
NG_023058.1:g.22659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.415C>G MANE Select	ENSP00000364782.4:p.Leu139Val
ENST00000677054.1:n.1092C>G
ENST00000677512.1:n.523C>G
ENST00000678869.1:n.523C>G
ENST00000375631.4:c.415C>G	ENSP00000364782.4:p.Leu139Val
ENST00000480384.1:n.444C>G
ENST00000491768.5:c.415C>G	ENSP00000433127.1:p.Leu139Val
ENST00000495807.1:n.983C>G
NM_000434.3:c.415C>G	NP_000425.1:p.Leu139Val
NM_000434.4:c.415C>G MANE Select	NP_000425.1:p.Leu139Val