Canonical Allele Identifier: CA115560
Gene: NEU1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31860588C>T
GRCh37 chr6:g.31828365C>T
Revel Score:
ENST00000375631 (MANE Select) 0.700
gnomAD v2:
6:31828365 C / T
gnomAD v3:
6:31860588 C / T
gnomAD v4:
chr6-31860588-C-T
Joint Max Group AF 0.00050675 (AFR)
Genomes Max Group AF 0.00039807 (AFR)
Exomes Max Group AF 0.00051884 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31860588C>T , CM000668.2:g.31860588C>T GRCh38
NC_000006.11:g.31828365C>T , CM000668.1:g.31828365C>T GRCh37
NC_000006.10:g.31936344C>T NCBI36
NG_008201.1:g.7345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375631.5:c.649G>A MANE Select ENSP00000364782.4:p.Val217Met
ENST00000677054.1:n.1892G>A
ENST00000677512.1:n.757G>A
ENST00000678869.1:n.1323G>A
ENST00000375631.4:c.649G>A ENSP00000364782.4:p.Val217Met
ENST00000480384.1:n.678G>A
ENST00000491768.5:c.649G>A ENSP00000433127.1:p.Val217Met
ENST00000495807.1:n.1783G>A
NM_000434.3:c.649G>A NP_000425.1:p.Val217Met
NM_000434.4:c.649G>A MANE Select NP_000425.1:p.Val217Met
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