Canonical Allele Identifier: CA363495088
Gene: NEU1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861421C>G , CM000668.2:g.31861421C>G GRCh38
NC_000006.11:g.31829198C>G , CM000668.1:g.31829198C>G GRCh37
NC_000006.10:g.31937177C>G NCBI36
NG_008201.1:g.6512G>C
NG_023058.1:g.22626G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.382G>C MANE Select ENSP00000364782.4:p.Val128Leu
ENST00000677054.1:n.1059G>C
ENST00000677512.1:n.490G>C
ENST00000678869.1:n.490G>C
ENST00000375631.4:c.382G>C ENSP00000364782.4:p.Val128Leu
ENST00000480384.1:n.411G>C
ENST00000491768.5:c.382G>C ENSP00000433127.1:p.Val128Leu
ENST00000495807.1:n.950G>C
NM_000434.3:c.382G>C NP_000425.1:p.Val128Leu
NM_000434.4:c.382G>C MANE Select NP_000425.1:p.Val128Leu