Canonical Allele Identifier: CA136925180
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs551854225
gnomAD v2: 6-31827441-G-A
gnomAD v3: 6-31859664-G-A
gnomAD v4: 6-31859664-G-A
MyVariant Identifiers: chr6:g.31827441G>A (hg19) chr6:g.31859664G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859664G>A , CM000668.2:g.31859664G>A GRCh38
NC_000006.11:g.31827441G>A , CM000668.1:g.31827441G>A GRCh37
NC_000006.10:g.31935420G>A NCBI36
NG_008201.1:g.8269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.*55C>T MANE Select ENSP00000364782.4:n.*55C>T
ENST00000677054.1:n.2642C>T
ENST00000677512.1:n.1580C>T
ENST00000678869.1:n.1891C>T
ENST00000375631.4:c.*55C>T ENSP00000364782.4:n.*55C>T
ENST00000480384.1:n.1602C>T
ENST00000491768.5:c.*413C>T ENSP00000433127.1:n.*413C>T
ENST00000495807.1:n.2611C>T
NM_000434.3:c.*55C>T NP_000425.1:n.*55C>T
NM_000434.4:c.*55C>T MANE Select NP_000425.1:n.*55C>T
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