Canonical Allele Identifier: CA3725058

Gene: NEU1

Linked Data

• dbSNP Id: rs781732906
• ExAC: 6:31829793 C / T
• gnomAD v2: 6-31829793-C-T
• gnomAD v4: 6-31862016-C-T
• MyVariant Identifiers: chr6:g.31829793C>T (hg19) ; chr6:g.31862016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31862016C>T , CM000668.2:g.31862016C>T	GRCh38
NC_000006.11:g.31829793C>T , CM000668.1:g.31829793C>T	GRCh37
NC_000006.10:g.31937772C>T	NCBI36
NG_008201.1:g.5917G>A
NG_023058.1:g.22031G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.335G>A MANE Select	ENSP00000364782.4:p.Arg112Gln
ENST00000677054.1:n.464G>A
ENST00000677512.1:n.443G>A
ENST00000678869.1:n.443G>A
ENST00000375631.4:c.335G>A	ENSP00000364782.4:p.Arg112Gln
ENST00000480384.1:n.364G>A
ENST00000491768.5:c.335G>A	ENSP00000433127.1:p.Arg112Gln
ENST00000495807.1:n.355G>A
NM_000434.3:c.335G>A	NP_000425.1:p.Arg112Gln
NM_000434.4:c.335G>A MANE Select	NP_000425.1:p.Arg112Gln