Canonical Allele Identifier: CA3725011

Gene: NEU1

Linked Data

• ClinVar Variation Id: 499244
• ClinVar RCV Id: RCV000596238 ; RCV002470921
• dbSNP Id: rs781137251
• ExAC: 6:31828965 C / T
• gnomAD v2: 6-31828965-C-T
• gnomAD v4: 6-31861188-C-T
• MyVariant Identifiers: chr6:g.31828965C>T (hg19) ; chr6:g.31861188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861188C>T , CM000668.2:g.31861188C>T	GRCh38
NC_000006.11:g.31828965C>T , CM000668.1:g.31828965C>T	GRCh37
NC_000006.10:g.31936944C>T	NCBI36
NG_008201.1:g.6745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.615G>A MANE Select	ENSP00000364782.4:p.Gln205=
ENST00000677054.1:n.1292G>A
ENST00000677512.1:n.723G>A
ENST00000678869.1:n.723G>A
ENST00000375631.4:c.615G>A	ENSP00000364782.4:p.Gln205=
ENST00000480384.1:n.644G>A
ENST00000491768.5:c.615G>A	ENSP00000433127.1:p.Gln205=
ENST00000495807.1:n.1183G>A
NM_000434.3:c.615G>A	NP_000425.1:p.Gln205=
NM_000434.4:c.615G>A MANE Select	NP_000425.1:p.Gln205=