Canonical Allele Identifier: CA212562
Gene: NEU1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31862112G>A
GRCh37 chr6:g.31829889G>A
Revel Score:
ENST00000375631 (MANE Select) 0.940
gnomAD v2:
6:31829889 G / A
gnomAD v3:
6:31862112 G / A
gnomAD v4:
chr6-31862112-G-A
Joint Max Group AF 0.00017086 (EAS)
Exomes Max Group AF 0.00019288 (EAS)
ClinVar RCV:
RCV000002556
RCV003555900
ClinVar Variation:
2452
dbSNP:
104893985
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31862112G>A , CM000668.2:g.31862112G>A GRCh38
NC_000006.11:g.31829889G>A , CM000668.1:g.31829889G>A GRCh37
NC_000006.10:g.31937868G>A NCBI36
NG_008201.1:g.5821C>T
NG_023058.1:g.21935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.239C>T MANE Select ENSP00000364782.4:p.Pro80Leu
ENST00000677054.1:n.368C>T
ENST00000677512.1:n.347C>T
ENST00000678869.1:n.347C>T
ENST00000375631.4:c.239C>T ENSP00000364782.4:p.Pro80Leu
ENST00000480384.1:n.268C>T
ENST00000491768.5:c.239C>T ENSP00000433127.1:p.Pro80Leu
ENST00000495807.1:n.259C>T
NM_000434.3:c.239C>T NP_000425.1:p.Pro80Leu
NM_000434.4:c.239C>T MANE Select NP_000425.1:p.Pro80Leu
Search 100 bp 5'
Search 100 bp 3'