Canonical Allele Identifier: CA363494806
Gene: NEU1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.428T>C MANE Select ENSP00000364782.4:p.Val143Ala
ENST00000677054.1:n.1105T>C
ENST00000677512.1:n.536T>C
ENST00000678869.1:n.536T>C
ENST00000375631.4:c.428T>C ENSP00000364782.4:p.Val143Ala
ENST00000480384.1:n.457T>C
ENST00000491768.5:c.428T>C ENSP00000433127.1:p.Val143Ala
ENST00000495807.1:n.996T>C
NM_000434.3:c.428T>C NP_000425.1:p.Val143Ala
NM_000434.4:c.428T>C MANE Select NP_000425.1:p.Val143Ala