Canonical Allele Identifier: CA3725011
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499244
ClinVar RCV Id: RCV002470921
dbSNP Id: rs781137251
ExAC: 6:31828965 C / T
gnomAD v2: 6-31828965-C-T
gnomAD v4: 6-31861188-C-T
MyVariant Identifiers: chr6:g.31828965C>T (hg19) chr6:g.31861188C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31861188C>T , CM000668.2:g.31861188C>T GRCh38
NC_000006.11:g.31828965C>T , CM000668.1:g.31828965C>T GRCh37
NC_000006.10:g.31936944C>T NCBI36
NG_008201.1:g.6745G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375631.5:c.615G>A MANE Select ENSP00000364782.4:p.Gln205=
ENST00000677054.1:n.1292G>A
ENST00000677512.1:n.723G>A
ENST00000678869.1:n.723G>A
ENST00000375631.4:c.615G>A ENSP00000364782.4:p.Gln205=
ENST00000480384.1:n.644G>A
ENST00000491768.5:c.615G>A ENSP00000433127.1:p.Gln205=
ENST00000495807.1:n.1183G>A
NM_000434.3:c.615G>A NP_000425.1:p.Gln205=
NM_000434.4:c.615G>A MANE Select NP_000425.1:p.Gln205=
Search 100 bp 5'
Search 100 bp 3'