Canonical Allele Identifier: CA363494805

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861375-A-C
• MyVariant Identifiers: chr6:g.31829152A>C (hg19) ; chr6:g.31861375A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861375A>C , CM000668.2:g.31861375A>C	GRCh38
NC_000006.11:g.31829152A>C , CM000668.1:g.31829152A>C	GRCh37
NC_000006.10:g.31937131A>C	NCBI36
NG_008201.1:g.6558T>G
NG_023058.1:g.22672T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.428T>G MANE Select	ENSP00000364782.4:p.Val143Gly
ENST00000677054.1:n.1105T>G
ENST00000677512.1:n.536T>G
ENST00000678869.1:n.536T>G
ENST00000375631.4:c.428T>G	ENSP00000364782.4:p.Val143Gly
ENST00000480384.1:n.457T>G
ENST00000491768.5:c.428T>G	ENSP00000433127.1:p.Val143Gly
ENST00000495807.1:n.996T>G
NM_000434.3:c.428T>G	NP_000425.1:p.Val143Gly
NM_000434.4:c.428T>G MANE Select	NP_000425.1:p.Val143Gly