Canonical Allele Identifier: CA363495600
Gene: NEU1 HGNC NCBI

Linked Data

dbSNP Id: rs1194179575
gnomAD v2: 6-31829803-T-G
gnomAD v3: 6-31862026-T-G
gnomAD v4: 6-31862026-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31862026T>G , CM000668.2:g.31862026T>G GRCh38
NC_000006.11:g.31829803T>G , CM000668.1:g.31829803T>G GRCh37
NC_000006.10:g.31937782T>G NCBI36
NG_008201.1:g.5907A>C
NG_023058.1:g.22021A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375631.5:c.325A>C MANE Select ENSP00000364782.4:p.Ile109Leu
ENST00000677054.1:n.454A>C
ENST00000677512.1:n.433A>C
ENST00000678869.1:n.433A>C
ENST00000375631.4:c.325A>C ENSP00000364782.4:p.Ile109Leu
ENST00000480384.1:n.354A>C
ENST00000491768.5:c.325A>C ENSP00000433127.1:p.Ile109Leu
ENST00000495807.1:n.345A>C
NM_000434.3:c.325A>C NP_000425.1:p.Ile109Leu
NM_000434.4:c.325A>C MANE Select NP_000425.1:p.Ile109Leu