Canonical Allele Identifier: CA2678053371
Gene: NEU1 HGNC NCBI

Linked Data

gnomAD v4: 6-31859639-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859639T>C , CM000668.2:g.31859639T>C GRCh38
NC_000006.11:g.31827416T>C , CM000668.1:g.31827416T>C GRCh37
NC_000006.10:g.31935395T>C NCBI36
NG_008201.1:g.8294A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.*80A>G MANE Select ENSP00000364782.4:n.*80A>G
ENST00000677054.1:n.2667A>G
ENST00000677512.1:n.1605A>G
ENST00000678869.1:n.1916A>G
ENST00000375631.4:c.*80A>G ENSP00000364782.4:n.*80A>G
ENST00000480384.1:n.1627A>G
ENST00000491768.5:c.*438A>G ENSP00000433127.1:n.*438A>G
ENST00000495807.1:n.2636A>G
NM_000434.3:c.*80A>G NP_000425.1:n.*80A>G
NM_000434.4:c.*80A>G MANE Select NP_000425.1:n.*80A>G