Canonical Allele Identifier: CA212562
Gene: NEU1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452
ClinVar RCV Id: RCV000002556
dbSNP Id: rs104893985

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
ENST00000375631.4:c.239C>T ENSP00000364782.4:p.Pro80Leu
ENST00000491768.5:c.239C>T ENSP00000433127.1:p.Pro80Leu
NM_000434.3:c.239C>T NP_000425.1:p.Pro80Leu
NM_000434.4:c.239C>T MANE Select NP_000425.1:p.Pro80Leu