Canonical Allele Identifier: CA136925153

Gene: NEU1

Linked Data

• dbSNP Id: rs144539240
• gnomAD v3: 6-31859638-G-A
• gnomAD v4: 6-31859638-G-A
• MyVariant Identifiers: chr6:g.31827415G>A (hg19) ; chr6:g.31859638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859638G>A , CM000668.2:g.31859638G>A	GRCh38
NC_000006.11:g.31827415G>A , CM000668.1:g.31827415G>A	GRCh37
NC_000006.10:g.31935394G>A	NCBI36
NG_008201.1:g.8295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.*81C>T MANE Select	ENSP00000364782.4:n.*81C>T
ENST00000677054.1:n.2668C>T
ENST00000677512.1:n.1606C>T
ENST00000678869.1:n.1917C>T
ENST00000375631.4:c.*81C>T	ENSP00000364782.4:n.*81C>T
ENST00000480384.1:n.1628C>T
ENST00000491768.5:c.*439C>T	ENSP00000433127.1:n.*439C>T
ENST00000495807.1:n.2637C>T
NM_000434.3:c.*81C>T	NP_000425.1:n.*81C>T
NM_000434.4:c.*81C>T MANE Select	NP_000425.1:n.*81C>T