Canonical Allele Identifier: CA449808634

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2845072
• ClinVar RCV Id: RCV003719326
• MyVariant Identifiers: chr6:g.31829226G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861449G>C , CM000668.2:g.31861449G>C	GRCh38
NC_000006.11:g.31829226G>C , CM000668.1:g.31829226G>C	GRCh37
NC_000006.10:g.31937205G>C	NCBI36
NG_008201.1:g.6484C>G
NG_023058.1:g.22598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.354C>G MANE Select	ENSP00000364782.4:p.Gly118=
ENST00000677054.1:n.1031C>G
ENST00000677512.1:n.462C>G
ENST00000678869.1:n.462C>G
ENST00000375631.4:c.354C>G	ENSP00000364782.4:p.Gly118=
ENST00000480384.1:n.383C>G
ENST00000491768.5:c.354C>G	ENSP00000433127.1:p.Gly118=
ENST00000495807.1:n.922C>G
NM_000434.3:c.354C>G	NP_000425.1:p.Gly118=
NM_000434.4:c.354C>G MANE Select	NP_000425.1:p.Gly118=