Canonical Allele Identifier: CA136925383

Gene: NEU1

Linked Data

• dbSNP Id: rs1023814465
• gnomAD v4: 6-31859949-G-C
• MyVariant Identifiers: chr6:g.31827726G>C (hg19) ; chr6:g.31859949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859949G>C , CM000668.2:g.31859949G>C	GRCh38
NC_000006.11:g.31827726G>C , CM000668.1:g.31827726G>C	GRCh37
NC_000006.10:g.31935705G>C	NCBI36
NG_008201.1:g.7984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1022-4C>G MANE Select	ENSP00000364782.4:n.1022-4C>G
ENST00000677054.1:n.2357C>G
ENST00000677512.1:n.1299-4C>G
ENST00000678869.1:n.1610-4C>G
ENST00000375631.4:c.1022-4C>G	ENSP00000364782.4:n.1022-4C>G
ENST00000480384.1:n.1317C>G
ENST00000491768.5:c.*132-4C>G	ENSP00000433127.1:n.*132-4C>G
ENST00000495807.1:n.2330-4C>G
NM_000434.3:c.1022-4C>G	NP_000425.1:n.1022-4C>G
NM_000434.4:c.1022-4C>G MANE Select	NP_000425.1:n.1022-4C>G