Canonical Allele Identifier: CA363495515

Gene: NEU1

Linked Data

• dbSNP Id: rs1176920581
• gnomAD v2: 6-31829791-T-C
• gnomAD v4: 6-31862014-T-C
• MyVariant Identifiers: chr6:g.31829791T>C (hg19) ; chr6:g.31862014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31862014T>C , CM000668.2:g.31862014T>C	GRCh38
NC_000006.11:g.31829791T>C , CM000668.1:g.31829791T>C	GRCh37
NC_000006.10:g.31937770T>C	NCBI36
NG_008201.1:g.5919A>G
NG_023058.1:g.22033A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.337A>G MANE Select	ENSP00000364782.4:p.Arg113Gly
ENST00000677054.1:n.466A>G
ENST00000677512.1:n.445A>G
ENST00000678869.1:n.445A>G
ENST00000375631.4:c.337A>G	ENSP00000364782.4:p.Arg113Gly
ENST00000480384.1:n.366A>G
ENST00000491768.5:c.337A>G	ENSP00000433127.1:p.Arg113Gly
ENST00000495807.1:n.357A>G
NM_000434.3:c.337A>G	NP_000425.1:p.Arg113Gly
NM_000434.4:c.337A>G MANE Select	NP_000425.1:p.Arg113Gly