Canonical Allele Identifier: CA3725033
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 559022
ClinVar RCV Id: RCV000675980 RCV001153767
dbSNP Id: rs41267074
ExAC: 6:31829172 C / T
gnomAD v2: 6-31829172-C-T
gnomAD v3: 6-31861395-C-T
gnomAD v4: 6-31861395-C-T
MyVariant Identifiers: chr6:g.31829172C>T (hg19) chr6:g.31861395C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861395C>T , CM000668.2:g.31861395C>T GRCh38
NC_000006.11:g.31829172C>T , CM000668.1:g.31829172C>T GRCh37
NC_000006.10:g.31937151C>T NCBI36
NG_008201.1:g.6538G>A
NG_023058.1:g.22652G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.408G>A MANE Select ENSP00000364782.4:p.Gly136=
ENST00000677054.1:n.1085G>A
ENST00000677512.1:n.516G>A
ENST00000678869.1:n.516G>A
ENST00000375631.4:c.408G>A ENSP00000364782.4:p.Gly136=
ENST00000480384.1:n.437G>A
ENST00000491768.5:c.408G>A ENSP00000433127.1:p.Gly136=
ENST00000495807.1:n.976G>A
NM_000434.3:c.408G>A NP_000425.1:p.Gly136=
NM_000434.4:c.408G>A MANE Select NP_000425.1:p.Gly136=
Search 100 bp 5'
Search 100 bp 3'